DiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and Equipment
Mucopolysaccharidosis IIIMucopolysaccharidosis IMucopolysaccharidosis VIMucopolysaccharidosis VIIMucopolysaccharidosis IIMucopolysaccharidosesMucopolysaccharidosis IVIduronidaseN-Acetylgalactosamine-4-SulfataseChondro-4-SulfataseIduronate SulfataseChondroitinsulfatasesEnzyme Replacement TherapyGlucuronidase
Mucopolysaccharidosis III
Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
Mucopolysaccharidosis I
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
Mucopolysaccharidosis VI
Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).
Mucopolysaccharidosis VII
Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
Mucopolysaccharidosis II
Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
Mucopolysaccharidoses
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
Mucopolysaccharidosis IV
Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.
Iduronidase
An enzyme that hydrolyzes iduronosidic linkages in desulfated dermatan. Deficiency of this enzyme produces Hurler's syndrome. EC 3.2.1.76.
N-Acetylgalactosamine-4-Sulfatase
An arylsulfatase that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate. A deficiency of this enzyme is responsible for the inherited lysosomal disease, Maroteaux-Lamy syndrome (MUCOPOLYSACCHARIDOSIS VI). EC 3.1.6.12.
Chondro-4-Sulfatase
An enzyme from the sulfuric ester hydrolase class that breaks down one of the products of the chondroitin lyase II reaction. EC 3.1.6.9.
Iduronate Sulfatase
An enzyme that specifically cleaves the ester sulfate of iduronic acid. Its deficiency has been demonstrated in Hunter's syndrome, which is characterized by an excess of dermatan sulfate and heparan sulfate. EC 3.1.6.13.
Chondroitinsulfatases
A group of enzymes that catalyze the hydrolysis of various sulfate bonds of chondroitin sulfate. EC 3.1.6.-.
Enzyme Replacement Therapy
Therapeutic replacement or supplementation of defective or missing enzymes to alleviate the effects of enzyme deficiency (e.g., GLUCOSYLCERAMIDASE replacement for GAUCHER DISEASE).
Glucuronidase
Glucuronidase is an enzyme (specifically, a glycosidase) that catalyzes the hydrolysis of glucuronic acid from various substrates, playing crucial roles in metabolic processes like detoxification and biotransformation within organisms.

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. (1/99)

Sanfilippo B syndrome (mucopolysaccharidosis IIIB, MPS IIIB) is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. Accumulation of the substrate in lysosomes leads to degeneration of the central nervous system with progressive dementia often combined with hyperactivity and aggressive behaviour. Age of onset and rate of progression vary considerably, whilst diagnosis is often delayed due to the absence of the pronounced skeletal changes observed in other mucopolysaccharidoses. Cloning of the gene and cDNA encoding alpha-N-acetylglucosaminidase enabled a study of the molecular basis of this syndrome. We were able to identify 31 mutations, 25 of them novel, and two polymorphisms in the 40 patients mostly of Australasian and Dutch origin included in this study. The observed allellic heterogeneity reflects the wide spectrum of clinical phenotypes reported for MPS IIIB patients. The majority of changes are missense mutations; also four nonsense and nine frameshift mutations caused by insertions or deletions were identified. Only five mutations were found in more than one patient and the observed frequencies are well below those observed for the common mutations in MPS IIIA. R643C and R297X each account for around 20% of MPS IIIB alleles in the Dutch patient group, whilst R297X, P521L, R565W and R626X each have a frequency of about 6% in Australasian patients. R643C seems to be a Dutch MPS IIIB allele and clearly confers the attenuated phenotype. One region of the gene shows a higher concentration of mutations, probably reflecting the instability of this area which contains a direct repeat. Several arginine residues seem to be 'hot-spots' for mutations, being affected by two or three individual base pair exchanges.  (+info)

A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). (2/99)

Mucopolysaccharidosis type III A (MPS III A, Sanfilippo syndrome) is a rare, autosomal recessive, lysosomal storage disease characterized by accumulation of heparan sulfate secondary to defective function of the lysosomal enzyme heparan N- sulfatase (sulfamidase). Here we describe a spontaneous mouse mutant that replicates many of the features found in MPS III A in children. Brain sections revealed neurons with distended lysosomes filled with membranous and floccular materials with some having a classical zebra body morphology. Storage materials were also present in lysosomes of cells of many other tissues, and these often stained positively with periodic-acid Schiff reagent. Affected mice usually died at 7-10 months of age exhibiting a distended bladder and hepatosplenomegaly. Heparan sulfate isolated from urine and brain had nonreducing end glucosamine- N -sulfate residues that were digested with recombinant human sulfamidase. Enzyme assays of liver and brain extracts revealed a dramatic reduction in sulfamidase activity. Other lysosomal hydrolases that degrade heparan sulfate or other glycans and glycosaminoglycans were either normal, or were somewhat increased in specific activity. The MPS III A mouse provides an excellent model for evaluating pathogenic mechanisms of disease and for testing treatment strategies, including enzyme or cell replacement and gene therapy.  (+info)

Analysis of glycosaminoglycans in urine by using acridine orange fluorescence. (3/99)

The fluorescence technique described here utilizes the electrostatic interaction between the polyanionic sites of glycosaminoglycans and the cationic dye Acridine Orange to analyse urinary glycosaminoglycans from patients suffering from mucopolysaccharidoses. The basis of the titration is the decrease in the fluorescence of free Acridine Orange that occurs when it is bound to polyanions. The effect of the presence of possible interfering materials such as salt, proteins and trace materials in urine was evaluated. This fluorescence technique is technically simple.  (+info)

Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. (4/99)

The Sanfilippo syndrome type B is an autosomal recessive disorder caused by mutation in the gene (NAGLU) encoding alpha-N-acetylglucosaminidase, a lysosomal enzyme required for the stepwise degradation of heparan sulfate. The most serious manifestations are profound mental retardation, intractable behavior problems, and death in the second decade. To generate a model for studies of pathophysiology and of potential therapy, we disrupted exon 6 of Naglu, the homologous mouse gene. Naglu-/- mice were healthy and fertile while young and could survive for 8-12 mo. They were totally deficient in alpha-N-acetylglucosaminidase and had massive accumulation of heparan sulfate in liver and kidney as well as secondary changes in activity of several other lysosomal enzymes in liver and brain and elevation of gangliosides G(M2) and G(M3) in brain. Vacuolation was seen in many cells, including macrophages, epithelial cells, and neurons, and became more prominent with age. Although most vacuoles contained finely granular material characteristic of glycosaminoglycan accumulation, large pleiomorphic inclusions were seen in some neurons and pericytes in the brain. Abnormal hypoactive behavior was manifested by 4.5-mo-old Naglu-/- mice in an open field test; the hyperactivity that is characteristic of affected children was not observed even in younger mice. In a Pavlovian fear conditioning test, the 4.5-mo-old mutant mice showed normal response to context, indicating intact hippocampal-dependent learning, but reduced response to a conditioning tone, perhaps attributable to hearing impairment. The phenotype of the alpha-N-acetylglucosaminidase-deficient mice is sufficiently similar to that of patients with the Sanfilippo syndrome type B to make these mice a good model for study of pathophysiology and for development of therapy.  (+info)

Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome. (5/99)

Mucopolysaccharidosis IIIA (MPS-IIIA) is an autosomal recessive lysosomal storage disorder caused by the deficiency of sulfamidase (NS; EC 3.10.1.1), resulting in defective degradation and storage of heparan sulfate. This paper reports the production and characterization of monoclonal and polyclonal antibodies against recombinant human sulfamidase (rhNS) to quantitate and characterize normal and mutant sulfamidase produced from the wild type NS expression vector. Glycosylation and phosphorylation studies of immunoprecipitated rhNS show that all five potential glycosylation sites are utilized, with three high mannose/hybrid oligosaccharides and two simpler chains, with at least one functional mannose 6-phosphate group. An NS quantification system was developed to determine the effect of the three most common and severe patient mutations: S66W (Italy), R74C (Poland), and R245H (The Netherlands). The quantity and specific activity of expressed mutant rhNS was significantly lower than expressed normal rhNS, with 0.3, 0.2, and 0.05% of normal rhNS produced and 15, 17, and 83% of normal specific activity for S66W, R74C, and R245H observed, respectively. The recent structural elucidation of N-acetylgalactosamine-4-sulfatase was utilized to postulate the effect on the structure-function relationship of NS. The characterization of normal and mutated rhNS has relevance for efficient diagnosis and therapeutic developments for MPS-IIIA patients.  (+info)

Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. (6/99)

Hurler disease resulting from a deficiency in alpha-L-iduronidase, which causes an accumulation of dermatan sulfate and heparan sulfate glycosaminoglycans, is characterized by connective tissue and skeletal deformations, cardiomyopathy, cardiac valve defects, and progressive coronary artery stenosis. In this report, we present evidence that accumulation of dermatan sulfate but not heparan sulfate moieties is linked to impaired elastic fiber assembly that, in turn, contributes substantially to the development of the clinical phenotype in Hurler disease. Our data suggest that dermatan sulfate-bearing moieties bind to and cause functional inactivation of the 67-kd elastin-binding protein, a molecular chaperone for tropoelastin, which normally facilitates its secretion and assembly into elastic fibers. We demonstrate that, in contrast to normal skin fibroblasts and cells from Sanfilippo disease, which accumulate heparan sulfate, Hurler fibroblasts show reduced expression of elastin-binding protein and do not assemble elastic fibers, despite an adequate synthesis of tropoelastin and sufficient production of a microfibrillar scaffold of elastic fibers. Because cultured Hurler fibroblasts proliferate more quickly than their normal counterparts and the addition of exogenous insoluble elastin reduces their proliferation, we suggest that cell contacts with insoluble elastin play an important role in controlling their proliferation.  (+info)

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects. (7/99)

Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) results from the deficiency of the enzyme heparan N-sulfatase (NS, EC 3.10.1.1), required for the degradation of heparan sulfate. Molecular defects of 24 Italian MPS IIIA patients were recently reported by our group. We report here two novel mutations: 1040insT and Q365X and the expression studies on 15 of the identified defects. Transient expression of COS cells by cDNA mutagenized to correspond to heparan N-sulfatase mutations Y40N, A44T, 166delG, G122R, P128L, L146P, R150Q, D179N, R182C, R206P, P227R, 1040insT, 1093insG, E369K, R377C did not yield active enzyme, demonstrating the deleterious nature of the mutations. Western blot analysis and metabolic labeling experiments revealed, for cells transfected with wild-type enzyme, a precursor 62-kDa form and a mature 56-kDa form. Western blot resulted, for 11 mutations, in the presence of both forms, indicating a normal maturation of the mutant enzyme. Western blot, metabolic labeling and immunofluorescence experiments suggested, for mutations 166delG, L146P, 1040insT and 1093insG, an increased degradation of the mutant enzymes.  (+info)

Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. (8/99)

Mucopolysaccharidosis type IIIB (MPS-IIB) is a lysosomal storage disorder characterised by the defective degradation of heparan sulfate due to a deficiency of alpha-N-acetylglucosaminidase (NAG). The clinical severity of MPS-IIIB ranges from an attenuated to severely affected Sanfilippo phenotype. This paper describes the expression and characterisation of wild-type recombinant NAG and the molecular characterisation of a previously identified R297X/F48L compound heterozygous MPS-IIIB patient with attenuated Sanfilippo syndrome. We have previously shown R297X to be the most common mutation in a cohort of Dutch and Australian patients, occurring at a frequency of approximately 12.5%. To date F48L has only been described in the proband. To determine the contribution of each mutation to the overall clinical phenotype of the patient, both mutant alleles were engineered into the wild-type NAG cDNA and expressed in Chinese hamster ovary cells. The wild-type NAG and F48L mutant alleles were also retrovirally expressed in MPS-IIIB skin fibroblasts. Residual NAG activity and the stability and maturation of immunoprecipitated NAG were determined for wild-type NAG and mutant NAG. The combined biochemical phenotypes of the two NAG mutant alleles demonstrated a good correspondence with the observed attenuated Sanfilippo phenotype of the patient.  (+info)

Mucopolysaccharidosis III, also known as Sanfilippo syndrome, is a genetic lysosomal storage disorder caused by deficiency of any of the four enzymes needed to break down mucopolysaccharides, resulting in cellular accumulation of heparan sulfate and consequent neurological decline.

Mucopolysaccharidosis III, also known as Sanfilippo syndrome, is a genetic disorder caused by the deficiency of specific enzymes needed to break down complex sugar molecules called glycosaminoglycans (GAGs) or mucopolysaccharides. This results in an accumulation of these substances in various tissues and organs, leading to progressive damage.

There are four main types of Mucopolysaccharidosis III (A, B, C, and D), each caused by a deficiency in one of the following enzymes: heparan N-sulfatase (type A), alpha-N-acetylglucosaminidase (type B), acetyl-CoAlpha-glucosaminide acetyltransferase (type C), or N-acetylglucosamine 6-sulfatase (type D).

The symptoms of Mucopolysaccharidosis III typically become apparent between the ages of 2 and 6, and may include developmental delays, hyperactivity, behavioral problems, sleep disturbances, coarse facial features, hirsutism, hepatosplenomegaly (enlarged liver and spleen), and joint stiffness. Over time, individuals with Mucopolysaccharidosis III may experience a decline in cognitive abilities, loss of previously acquired skills, and mobility issues.

Currently, there is no cure for Mucopolysaccharidosis III, and treatment is focused on managing the symptoms and improving quality of life. Enzyme replacement therapy, gene therapy, and stem cell transplantation are some of the experimental treatments being investigated for this condition.

Mucopolysaccharidosis I, also known as Hurler or Hurler-Scheie syndrome, is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme α-L-iduronidase leading to accumulation of glycosaminoglycans in various tissues and manifesting as developmental delay, coarse facies, corneal clouding, cardiac disease, hearing loss, hepatosplenomegaly, and joint stiffness.

Mucopolysaccharidosis I (MPS I) is a rare genetic disorder caused by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs), also known as mucopolysaccharides, in the body.

When the enzyme is deficient, GAGs accumulate in various tissues and organs, leading to a range of symptoms that can affect different parts of the body, including the skeletal system, heart, respiratory system, eyes, and central nervous system. There are three subtypes of MPS I: Hurler syndrome (the most severe form), Hurler-Scheie syndrome (an intermediate form), and Scheie syndrome (the least severe form).

The symptoms and severity of MPS I can vary widely depending on the specific subtype, with Hurler syndrome typically causing more significant health problems and a shorter life expectancy than the other two forms. Treatment options for MPS I include enzyme replacement therapy, bone marrow transplantation, and various supportive therapies to manage symptoms and improve quality of life.

Mucopolysaccharidosis VI, also known as Maroteaux-Lamy syndrome, is a rare genetic lysosomal storage disorder caused by deficiency of the enzyme N-acetylgalactosamine 4-sulfatase, leading to accumulation of certain complex carbohydrates (glycosaminoglycans or mucopolysaccharides) in various tissues and organs, resulting in progressive multisystemic clinical manifestations such as skeletal abnormalities, cardiac disease, respiratory difficulties, and facial dysmorphism.

Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare genetic disorder caused by the deficiency of an enzyme called N-acetylgalactosamine 4-sulfatase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs) or mucopolysaccharides, which are found in various tissues and organs throughout the body.

When the enzyme is deficient, GAGs accumulate within the lysosomes of cells, leading to cellular dysfunction and tissue damage. This accumulation results in a range of symptoms that can affect multiple organ systems, including the skeletal system, cardiovascular system, respiratory system, and central nervous system.

The signs and symptoms of MPS VI can vary widely among affected individuals, but common features include: coarse facial features, short stature, stiff joints, restricted mobility, recurrent respiratory infections, hearing loss, heart valve abnormalities, and clouding of the cornea. The severity of the disease can range from mild to severe, and life expectancy is generally reduced in individuals with more severe forms of the disorder.

MPS VI is inherited as an autosomal recessive trait, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Mucopolysaccharidosis VII, also known as Sly syndrome, is a rare inherited metabolic disorder caused by the deficiency of the enzyme beta-glucuronidase, leading to the accumulation of complex sugar molecules called glycosaminoglycans in various tissues and organs, resulting in progressive cellular damage and multi-systemic manifestations.

Mucopolysaccharidosis (MPS) VII, also known as Sly syndrome, is a rare genetic disorder caused by the deficiency of the enzyme beta-glucuronidase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs), or mucopolysaccharides, in the body. When this enzyme is not present in sufficient amounts, GAGs accumulate in various tissues and organs, leading to progressive damage.

The symptoms of MPS VII can vary widely, but often include coarse facial features, short stature, skeletal abnormalities, hearing loss, heart problems, and intellectual disability. Some individuals with MPS VII may also have cloudy corneas, enlarged liver and spleen, and difficulty breathing due to airway obstruction. The severity of the condition can range from mild to severe, and life expectancy is often reduced in those with more severe symptoms.

MPS VII is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Treatment for MPS VII typically involves enzyme replacement therapy, which can help to slow down the progression of the disease and improve some symptoms. However, there is currently no cure for this condition.

Mucopolysaccharidosis II, also known as Hunter Syndrome, is a rare X-linked recessive lysosomal storage disorder caused by deficiency of the iduronate-2-sulfatase enzyme leading to accumulation of glycosaminoglycans in various tissues and organs, resulting in progressive physical disability, intellectual impairment, and distinctive facial features.

Mucopolysaccharidosis II (MPS II), also known as Hunter syndrome, is a rare X-linked recessive genetic disorder caused by the deficiency of an enzyme called iduronate sulfatase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs) or mucopolysaccharides in the body.

When this enzyme is missing or not functioning properly, GAGs accumulate in various tissues and organs, leading to progressive cellular damage and organ dysfunction. The symptoms of MPS II can vary widely but often include developmental delays, coarse facial features, hearing loss, airway obstruction, heart problems, enlarged liver and spleen, and joint stiffness.

The severity of the disease can range from mild to severe, with some individuals experiencing only moderate symptoms while others may have significant intellectual disability and life-threatening complications. Treatment options for MPS II include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), but there is currently no cure for the disease.

Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by the deficiency of specific lysosomal enzymes needed to break down glycosaminoglycans (GAGs or mucopolysaccharides), leading to an accumulation of these substances in various tissues and organs, resulting in progressive cellular damage and multi-systemic clinical manifestations.

Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by the deficiency of specific enzymes needed to break down complex sugars called glycosaminoglycans (GAGs or mucopolysaccharides). As a result, these GAGs accumulate in various tissues and organs, leading to progressive cellular damage and multi-organ dysfunction. There are several types of MPS, including Hurler syndrome, Hunter syndrome, Sanfilippo syndrome, Morquio syndrome, Maroteaux-Lamy syndrome, and Sly syndrome, each resulting from a deficiency in one of the eleven different enzymes involved in GAGs metabolism. The clinical presentation, severity, and prognosis vary among the types but commonly include features such as developmental delay, coarse facial features, skeletal abnormalities, hearing loss, heart problems, and reduced life expectancy.

Mucopolysaccharidosis IV, also known as Morquio Syndrome, is a rare autosomal recessive lysosomal storage disorder caused by the deficiency of the enzyme N-acetylgalactosamine-6-sulfatase, leading to the accumulation of glycosaminoglycans in various tissues and organs, resulting in skeletal abnormalities, short stature, and other systemic manifestations.

Mucopolysaccharidosis IV (MPS IV), also known as Morquio Syndrome, is a rare genetic disorder that belongs to the family of diseases called mucopolysaccharidoses. It is characterized by the accumulation of glycosaminoglycans (GAGs or mucopolysaccharides) in various tissues and organs due to deficiencies in specific enzymes needed to break down these complex carbohydrates.

There are two types of MPS IV: Type A and Type B, which are caused by deficiencies in different enzymes (GALNS and B3GALNT1, respectively). Both types result in similar symptoms but may vary in severity. The accumulation of GAGs primarily affects the bones, cartilage, eyes, ears, heart, and respiratory system.

Common features of MPS IV include:
* Dwarfism with short trunk and long limbs
* Progressive skeletal abnormalities such as kyphosis (hunchback), scoliosis (curvature of the spine), pectus carinatum (protruding breastbone), and joint laxity or stiffness
* Coarse facial features
* Corneal clouding
* Hearing loss
* Heart valve abnormalities
* Respiratory issues
* Hypermobile and dislocated joints
* Carpal tunnel syndrome
* Spinal cord compression

Treatment for MPS IV primarily focuses on managing symptoms, improving quality of life, and preventing complications. Enzyme replacement therapy (ERT) is available for Type B but not for Type A. Other treatments may include physical therapy, surgery, and medications to address specific symptoms.

Iduronidase is an enzyme, specifically a glycosidase, that catalyzes the hydrolysis of the terminal iduronic acid residues in dermatan sulfate and heparan sulfate, important components of connective tissue, and its deficiency leads to the lysosomal storage disorder known as Mucopolysaccharidosis I (Hunter syndrome).

Iduronidase is a type of enzyme that helps break down complex sugars called glycosaminoglycans (GAGs) in the body. Specifically, iduronidase is responsible for breaking down a type of GAG called dermatan sulfate and heparan sulfate.

Deficiency or absence of this enzyme can lead to a genetic disorder known as Mucopolysaccharidosis Type I (MPS I), which is characterized by the accumulation of GAGs in various tissues and organs, leading to progressive damage and impairment. There are two forms of MPS I: Hurler syndrome, which is the severe form, and Scheie syndrome, which is the milder form.

Iduronidase replacement therapy is available for the treatment of MPS I, in which the missing enzyme is delivered directly to the patient's body through intravenous infusion. This helps break down the accumulated GAGs and prevent further damage to the tissues and organs.

N-Acetylgalactosamine-4-Sulfatase is an enzyme that plays a role in the degradation of certain complex carbohydrates, specifically by removing 4-sulfate groups from N-acetylgalactosamine residues in glycosaminoglycans.

N-Acetylgalactosamine-4-Sulfatase is an enzyme that is responsible for breaking down complex carbohydrates in the body. Its specific function is to remove a sulfate group from a particular type of sugar molecule called N-acetylgalactosamine-4-sulfate, which is found on certain proteoglycans (large, complex sugars attached to proteins) in the body.

This enzyme plays an important role in the normal functioning of cells and tissues, particularly in the development and maintenance of bones, cartilage, and other connective tissues. Deficiencies in this enzyme can lead to a rare genetic disorder called Morquio A syndrome (also known as MPS IVA), which is characterized by skeletal abnormalities, short stature, and other health problems.

Chondro-4-Sulfatase is an enzyme that specifically cleaves the 4-sulfate group from the N-acetylgalactosamine sugar residue in dermatan sulfate and chondroitin sulfate proteoglycans, playing a crucial role in their catabolism and turnover within the extracellular matrix.

Chondro-4-sulfatase is an enzyme that belongs to the family of hydrolases, specifically those acting on ester bonds in sulfuric acid esters. It is responsible for catalyzing the hydrolysis of the 4-sulfate ester group from N-acetylgalactosamine 4-sulfate residues found in chondroitin 4-sulfate, a type of glycosaminoglycan (GAG) that is abundant in connective tissues such as cartilage.

Chondroitin 4-sulfate plays important roles in the structure and function of the extracellular matrix, including regulating cell adhesion, migration, and differentiation. The action of chondro-4-sulfatase helps to control the balance between sulfated and non-sulfated GAG chains, which is critical for maintaining normal tissue homeostasis.

Defects in chondro-4-sulfatase activity can lead to a rare genetic disorder called chondrodysplasia punctata type 1B (CDPX1B), also known as multiple sulfatase deficiency (MSD). This condition is characterized by skeletal abnormalities, developmental delay, and other neurological symptoms.

Iduronate sulfatase is an enzyme responsible for breaking down glycosaminoglycans, specifically dermatan sulfate and heparan sulfate, through the hydrolysis of N-sulfateglucuronic acid residues; a deficiency in this enzyme results in the lysosomal storage disorder known as Mucopolysaccharidosis Type I (Hunter Syndrome).

Iduronate sulfatase is an enzyme that plays a crucial role in the breakdown and recycling of complex sugars called glycosaminoglycans (GAGs). These GAGs are important components of various tissues, including connective tissues, bones, and cartilage.

Iduronate sulfatase is specifically responsible for breaking down a type of GAG known as dermatan sulfate and heparan sulfate by removing sulfate groups from specific sugar molecules in these GAGs. This enzyme is located in the lysosomes, which are membrane-bound organelles within cells that break down and recycle various materials.

Deficiency of iduronate sulfatase leads to a genetic disorder called Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome. In this condition, the lack of functional iduronate sulfatase enzyme results in an accumulation of dermatan sulfate and heparan sulfate in various tissues and organs, leading to progressive damage and a range of symptoms, including developmental delays, coarse facial features, hearing loss, heart problems, and joint stiffness.

Chondroitin sulfatases are a group of enzymes that catalyze the degradation of chondroitin sulfate, a type of proteoglycan found in connective tissues such as cartilage and bone, by cleaving specific sulfate groups from the chondroitin sulfate chain.

Chondroitin sulfatases are a group of enzymes that break down chondroitin sulfate, which is a type of glycosaminoglycan (GAG) found in connective tissues such as cartilage, bone, and skin. Glycosaminoglycans are long, complex chains of sugars that help provide structure, hydration, and elasticity to these tissues.

Chondroitin sulfate is composed of alternating units of glucuronic acid and N-acetylgalactosamine, with various sulfate groups attached at different positions along the chain. Chondroitin sulfatases cleave specific bonds within this structure to help regulate the turnover and remodeling of GAGs in tissues.

There are several types of chondroitin sulfatases (designated as chondroitin sulfatase A, B, C, D, etc.), each with distinct substrate specificities and cellular localizations. Defects in these enzymes can lead to various genetic disorders, such as skeletal dysplasias and neurodegenerative diseases, due to the accumulation of unprocessed or partially degraded chondroitin sulfate in tissues.

Enzyme Replacement Therapy (ERT) is a medical treatment that involves administering functional copies of an absent or deficient enzyme to compensate for the lack of enzymatic activity, typically used to manage inherited metabolic disorders like lysosomal storage diseases.

Enzyme Replacement Therapy (ERT) is a medical treatment approach in which functional copies of a missing or deficient enzyme are introduced into the body to compensate for the lack of enzymatic activity caused by a genetic disorder. This therapy is primarily used to manage lysosomal storage diseases, such as Gaucher disease, Fabry disease, Pompe disease, and Mucopolysaccharidoses (MPS), among others.

In ERT, the required enzyme is produced recombinantly in a laboratory using biotechnological methods. The purified enzyme is then administered to the patient intravenously at regular intervals. Once inside the body, the exogenous enzyme is taken up by cells, particularly those affected by the disorder, and helps restore normal cellular functions by participating in essential metabolic pathways.

ERT aims to alleviate disease symptoms, slow down disease progression, improve quality of life, and increase survival rates for patients with lysosomal storage disorders. However, it does not cure the underlying genetic defect responsible for the enzyme deficiency.

Glucuronidase is an enzyme (specifically, a glycosidase) that catalyzes the hydrolysis of glucuronic acid from various substrates, playing crucial roles in metabolic processes like detoxification and biotransformation within organisms.

Glucuronidase is an enzyme that catalyzes the hydrolysis of glucuronic acid from various substrates, including molecules that have been conjugated with glucuronic acid as part of the detoxification process in the body. This enzyme plays a role in the breakdown and elimination of certain drugs, toxins, and endogenous compounds, such as bilirubin. It is found in various tissues and organisms, including humans, bacteria, and insects. In clinical contexts, glucuronidase activity may be measured to assess liver function or to identify the presence of certain bacterial infections.

Sanfilippo Syndrome (Mucopolysaccharidosis Type III): Background, Pathophysiology, EpidemiologySanfilippo Syndrome (Mucopolysaccharidosis Type III): Background, Pathophysiology, Epidemiology
The mucopolysaccharidoses (MPSs) are a rare group of inherited lysosomal storage disorders that are caused by the deficiency or ... Mucopolysaccharidosis Type III)) and Sanfilippo Syndrome (Mucopolysaccharidosis Type III) What to Read Next on Medscape ... 8] Within this incidence, mucopolysaccharidosis III accounted for 47% of all cases of mucopolysaccharidoses, with a prevalence ... types II and III). Mucopolysaccharidosis V is defined as a form of type I and is known as mucopolysaccharidosis IS. Each ...
https://emedicine.medscape.com/article/948540-overview
Mucopolysaccharidosis type III: MedlinePlus GeneticsMucopolysaccharidosis type III: MedlinePlus Genetics
MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the central nervous system. Explore symptoms ... medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-iii/ Mucopolysaccharidosis type III. ... Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the brain and ... MPS III is the most common form of mucopolysaccharidosis; the estimated incidence of all four types combined is 1 in 70,000 ...
https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-iii/
Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Developing Drugs for Treatment Guidance for Industry | FDAMucopolysaccharidosis Type III (Sanfilippo Syndrome): Developing Drugs for Treatment Guidance for Industry | FDA
Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Developing Drugs for Treatment Guidance for Industry Draft Guidance for ... Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Developing Drugs for Treatment Guidance for Industry ... trial data quality and foster greater efficiency in development programs for drugs to treat mucopolysaccharidosis type III (MPS ...
https://www.fda.gov/regulatory-information/search-fda-guidance-documents/mucopolysaccharidosis-type-iii-sanfilippo-syndrome-developing-drugs-treatment-guidance-industry
Sanfilippo Syndrome (Mucopolysaccharidosis Type III): Background, Pathophysiology, EpidemiologySanfilippo Syndrome (Mucopolysaccharidosis Type III): Background, Pathophysiology, Epidemiology
The mucopolysaccharidoses (MPSs) are a rare group of inherited lysosomal storage disorders that are caused by the deficiency or ... Mucopolysaccharidosis Type III)) and Sanfilippo Syndrome (Mucopolysaccharidosis Type III) What to Read Next on Medscape ... 8] Within this incidence, mucopolysaccharidosis III accounted for 47% of all cases of mucopolysaccharidoses, with a prevalence ... types II and III). Mucopolysaccharidosis V is defined as a form of type I and is known as mucopolysaccharidosis IS. Each ...
https://reference.medscape.com/article/948540-overview
Genetics of Mucopolysaccharidosis Type III Medication
The mucopolysaccharidoses (MPSs) are a rare group of inherited lysosomal storage disorders that are caused by the deficiency or ... encoded search term (Genetics of Mucopolysaccharidosis Type III) and Genetics of Mucopolysaccharidosis Type III What to Read ... Mucopolysaccharidosis III (MPS III) Disease (Sanfilippo Syndrome). Genzyme Corporation. Available at www.lysosomallearning.com/ ... Genetics of Mucopolysaccharidosis Type III Medication. Updated: Mar 21, 2014 * Author: Germaine L Defendi, MD, MS, FAAP; Chief ...
https://emedicine.dev01.medscape.com/article/948540-medication
Genetics of Mucopolysaccharidosis Type III: Background, Pathophysiology, Epidemiology
The mucopolysaccharidoses (MPSs) are a rare group of inherited lysosomal storage disorders that are caused by the deficiency or ... encoded search term (Genetics of Mucopolysaccharidosis Type III) and Genetics of Mucopolysaccharidosis Type III What to Read ... Mucopolysaccharidosis III (MPS III) Disease (Sanfilippo Syndrome). Genzyme Corporation. Available at www.lysosomallearning.com/ ... 8] Within this incidence, mucopolysaccharidosis III accounted for 47% of all cases of mucopolysaccharidoses ,with a prevalence ...
https://reference.dev01.medscape.com/article/948540-overview
Sanfilippo syndrome - WikipediaSanfilippo syndrome - Wikipedia
"Mucopolysaccharidosis type III". Genetics Home Reference. March 2017. Retrieved 22 July 2018. "A Guide to Understanding MPS III ... Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage ... Edens Hurst, Anna C.; Zieve, David; Conaway, Brenda (1 May 2017). "Mucopolysaccharidosis type III". United States National ... Defendi, Germaine L. (23 May 2018). "Sanfilippo Syndrome (Mucopolysaccharidosis Type III)". Medscape. Retrieved 20 June 2019. " ...
https://en.wikipedia.org/wiki/Sanfilippo_syndrome
MPS III-A (Mucopolysaccharidosis III-A) < Mucopolysaccharidosis III << Mucopolysaccharidosis <<< Inborn Errors Carbohydrate...MPS III-A (Mucopolysaccharidosis III-A) < Mucopolysaccharidosis III << Mucopolysaccharidosis <<< Inborn Errors Carbohydrate...
Mucopolysaccharidosis III-A) is an allopathic name of a dis-ease in our body ... MPS III-A (Mucopolysaccharidosis III-A). "MPS III-A (Mucopolysaccharidosis III-A)" Mucopolysaccharidosis III-A. In our body, ... the autosomal recessive lysosomal storage dis-order, MPS III-A (Mucopolysaccharidosis III-A), aka Sanfilippo A Syndrome, is a ... MPS III-A ⌊Life (Life Sciences). ⌊Ecosystems of Life. ⌊Intracorporeal Ecosystems. ⌊Body Proper (corpus humanum). ⌊Biological ...
http://wellnessadvocate.com/?dgl=15513
Carbohydrate Metabolism Disorders: MedlinePlusCarbohydrate Metabolism Disorders: MedlinePlus
Mucopolysaccharidosis type II: MedlinePlus Genetics (National Library of Medicine) * Mucopolysaccharidosis type III: ... Mucopolysaccharidosis type IV: MedlinePlus Genetics (National Library of Medicine) * Mucopolysaccharidosis type VI: MedlinePlus ... Mucopolysaccharidoses (National Institute of Neurological Disorders and Stroke) * Pompe Disease (National Institute of ... Glycogen storage disease type III: MedlinePlus Genetics (National Library of Medicine) * Glycogen storage disease type IV: ...
https://medlineplus.gov/carbohydratemetabolismdisorders.html
Mucopolysaccharidosis (MPS): Review of the literature and case series of five pediatric dental patients. | Clin Case Rep;9(3):...Mucopolysaccharidosis (MPS): Review of the literature and case series of five pediatric dental patients. | Clin Case Rep;9(3):...
Mucopolysaccharidosis (MPS): Review of the literature and case series of five pediatric dental patients.. Hirst, Lorna; Mubeen ...
https://pesquisa.bvsalud.org/odontologia/resource/pt/mdl-33768919
EU/3/14/1359 | European Medicines AgencyEU/3/14/1359 | European Medicines Agency
What is mucopolysaccharidosis type I? Mucopolysaccharidosis type I (MPS I) is one of a group of inherited diseases caused by ... Opinions on orphan medicinal product designations are based on the following three criteria: *the seriousness of the condition; ... Pentosan polysulfate sodium for the treatment of mucopolysaccharidosis type I (PDF/112.7 KB) Adopted. First published: 15/01/ ... Orphan designation for the treatment of mucopolysaccharidosis type I. ...
https://www.ema.europa.eu/en/medicines/human/orphan-designations/eu-3-14-1359
PubMed (OMIM) for id: 44514 - Search Results - PubMedPubMed (OMIM) for id: 44514 - Search Results - PubMed
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. Crawley AC, ... Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Litjens ... Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. Crawley AC, Niedzielski KH, Isaac EL ... Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI. Evers M, ...
https://pubmed.ncbi.nlm.nih.gov/?from_uid=44514&linkname=medgen_pubmed_omim
Data Insights - Pharmaceutical TechnologyData Insights - Pharmaceutical Technology
Mucopolysaccharidosis III (MPS III) (Sanfilippo Syndrome ) (1) * Multiple Myeloma (Kahler Disease) (1) ... Pharmas path to Net Zero: Targeting Scope 3 emissions *Whats in a name: Agencies struggle to keep up with expanding drug ...
https://www.pharmaceutical-technology.com/data-insights/?wpsolr_fq%5B1%5D=categories%3AData%20Insights&wpsolr_fq%5B0%5D=_disease_name_str%3AMetastatic+Ovarian+Cancer&utm_source=lgp5-loa&utm_medium=24-186165&utm_campaign=single-page-lgp-topsection-pi
Medisinsk beskrivelse av Sanfilippos sykdom - FrambuMedisinsk beskrivelse av Sanfilippos sykdom - Frambu
Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes ... Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. ... Delivery of anesthesia for children with Mucopolysaccharidosis Type III (Sanfilippo syndrome): a review of 86 anesthetics. ... Basert på studier antar vi at forekomsten av mukopolysakkaridose type III (MPS III, Sanfilippos sykdom) er ca. 0.17-2.35 per ...
https://frambu.no/diagnosebeskrivelse/beskrivelse-av-tilstanden-sanfilippos-sykdom-mpsiii/
The early primary B cell response and activation of the follicular B cell response The early primary B cell response and activation of the follicular B cell response
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiol. 1999;9(12):1389-96. ...
https://www.alliedacademies.org/articles/the-early-primary-b-cell-response-and-activation-of-the-follicular-b-cell-response-23036.html
Mucopolysaccharidosis Type 3C (Mucopolysaccharidosis Type IIIC): Symptoms, Diagnosis and Treatment - SymptomaMucopolysaccharidosis Type 3C (Mucopolysaccharidosis Type IIIC): Symptoms, Diagnosis and Treatment - Symptoma
Mucopolysaccharidosis Type IIIC): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. ... The physical features of MPS III are less pronounced than those of other types of mucopolysaccharidosis. [medlineplus.gov] ... Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies. Pediatr Endocrinol Rev. 2014 ... Recommended Evaluations Following Initial Diagnosis in Individuals with Mucopolysaccharidosis Type III System/Concern ...
https://www.symptoma.com/en/info/mucopolysaccharidosis-type-3c
Embark Dog DNA Test - Breed
Canine Leukocyte Adhesion Deficiency Type III, CLAD III (FERMT3, German Shepherd Variant) Identified in German Shepherd Dogs ... Mucopolysaccharidosis Type VII, Sly Syndrome, MPS VII (GUSB Exon 3, German Shepherd Variant) Identified in German Shepherd Dogs ...
https://my.embarkvet.com/dog/yoshi103?utm_campaign=cns_ref_dog_pub_profile&utm_medium=other&utm_source=embark
Mucopolysaccharidoses Type 1/2, Total Heparan Sulfate & NRE (Sensi-Pro) Quant, Urine (3003552) | Rady Children's Hospital
Mucopolysaccharidoses Type 1/2, Total Heparan Sulfate & NRE (Sensi-Pro) Quant, Urine (3003552). ...
https://www.rchsd.org/lab-test/mucopolysaccharidoses-type-1-2-total-heparan-sulfate-nre-sensi-pro-quant-urine-3003552/
Steve Waugh Foundation - The Captains RideSteve Waugh Foundation - The Captain's Ride
Sanfilippo syndrome Mucopolysaccharidosis type III. *Secondary Fumaric Aciduria. *Selenoprotein N mutation myopathy ... Congenital Disorder of Glycosylation Type 1a (CDG1a) is just one of many rare diseases we ride for on day three. ... Acute Disseminating (or demyelinating) Encephalomyelitis is just one of many rare diseases we ride for on day three. ... Hi, My name is Logan, Im 3 years old. We both love colouring in, riding scooters and playing with toy cars and trucks. One of ...
https://www.stevewaughfoundation.com.au/the-captains-ride.html
Grzegorz Wegrzyn - Google ScholarGrzegorz Wegrzyn - Google Scholar
Mucopolysaccharidosis type III (S anfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/ ... which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal …. J Jak ... inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses ...
https://scholar.google.nl/citations?user=rY2YG3UAAAAJ&hl=nl&oe=ASCII
urofacial syndrome - Ontology Browser - Rat Genome Databaseurofacial syndrome - Ontology Browser - Rat Genome Database
mucolipidosis III gamma mucopolysaccharidosis Ih mucopolysaccharidosis Ih/s mucopolysaccharidosis IVA mucopolysaccharidosis ... 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia + 3-methylglutaconic aciduria with deafness ...
https://rgd.mcw.edu/rgdweb/ontology/view.html?acc_id=DOID:0050816
Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and...Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and...
Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA: Mucopolysaccharidosis type II in females: case report and review of ... Clarke JT, Greer WL, Strasberg PM, Pearce RD, Skomorowski MA, Ray PN: Hunter disease (mucopolysaccharidosis type II) associated ... Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and ... mucopolysaccharidosis was excluded by urine analysis in patient 1. For AFF2, the transcript levels showed a pronounced ...
https://karger.com/msy/article/5/2/65/205169/Microdeletions-Including-FMR1-in-Three-Female
Embark Dog DNA Test - Breed
Canine Leukocyte Adhesion Deficiency Type III, CLAD III (FERMT3, German Shepherd Variant) Identified in German Shepherd Dogs ... Mucopolysaccharidosis Type VII, Sly Syndrome, MPS VII (GUSB Exon 3, German Shepherd Variant) Identified in German Shepherd Dogs ... We were unable to detect three variants for Shiloh. Your dog is not at increased risk for the other conditions we test for. ... 3, 4, 7, 10, 15, and more. Your dog looks the way it does not because of averaging or blending the breeds that form it, but ...
https://my.embarkvet.com/dog/shiloh
Specific PHGKB|Rare Diseases PHGKB|PHGKB
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a ... Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening. Nijmeijer ... Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the ...
https://phgkb.cdc.gov/PHGKB/specificPHGKB.action?topic=rare&query=Mucopolysaccharidosis+type+III
Mark Pennesi - Publications - Oregon Health & Science University
Mucopolysaccharidosis III 100% * Retinopathy, Pericentral Pigmentary, Autosomal Recessive 69% * Medical Genetics 42% ... Three‐Year Safety Results of SAR422459 (EIAV‐ABCA4) Gene Therapy in Patients With ABCA4‐Associated Stargardt Disease: An Open‐ ... Variable expressivity of BEST1 -associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree ... Yang, P., Pennesi, M. E. & Weleber, R. G., Mar 2021, In: JAMA ophthalmology. 139, 3, p. 328-329 2 p.. Research output: ...
https://ohsu.elsevierpure.com/en/persons/mark-pennesi/publications/
Department of Life Science - Research output - National Taiwan Normal UniversityDepartment of Life Science - Research output - National Taiwan Normal University
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA). Lee- ... 林冠宏, 賴永昌, 張光毅, 陳彥甫(Yen-Fu C, 黃士穎(Shih-Ying H & 羅筱鳳, 2007, In: Botanical Studies. 48, 3, p. 283-292 10 p.. Research output: ... Hwang, S. Y., Li, Y. S. & Lin, T. P., 2022 Jul 6, In: Taiwania. 67, 3, p. 366-376 11 p.. Research output: Contribution to ... Hsu, Y. F. & Yen, S. H., 2006 Jul, In: Zoological Studies. 45, 3, p. 308-321 14 p.. Research output: Contribution to journal › ...
https://scholar.lib.ntnu.edu.tw/en/organisations/department-of-life-science-2/publications/?ordering=type&descending=false&page=10
Isl1 Mouse Gene Details | ISL1 transcription factor, LIM/homeodomain | International Mouse Phenotyping ConsortiumIsl1 Mouse Gene Details | ISL1 transcription factor, LIM/homeodomain | International Mouse Phenotyping Consortium
Phenotype data for mouse gene Isl1. Discover Isl1s significant phenotypes, expression, images, histopathology and more. Data for gene Isl1 is all freely available for download.
https://www.mousephenotype.org/data/genes/MGI:101791
Ocular Features of Mucopolysaccharidosis - EyeWikiOcular Features of Mucopolysaccharidosis - EyeWiki
Mucopolysaccharidoses (MPSs) are a heterogenous and rare group of lysosomal storage disorders. Lysosomes are present in all ... Quality of life related to visual function in three young adults with mucopolysaccharidoses. ScientificWorldJournal, 2003. 3: p ... 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 2.11 2.12 2.13 2.14 Ashworth, J.L., et al., Mucopolysaccharidoses and ... 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 Del Longo, A., E. Piozzi, and F. Schweizer, Ocular features in mucopolysaccharidosis: ...
https://eyewiki.org/Ocular_Features_of_Mucopolysaccharidosis
Rod-cone dystrophy[Clinical Features] OR 1632921[uid] - MedGen -..."Rod-cone dystrophy"[Clinical Features] OR 1632921[uid] - MedGen -...
Mucopolysaccharidosis, MPS-III-C. Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease ... PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three ... The late-infantile and childhood ataxia-intellectual disability stage, which begins between ages three and ten years, is ... clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of ...
https://https.ncbi.nlm.nih.gov/medgen?term=%22Rod-cone%20dystrophy%22%5BClinical%20Features%5D%20OR%201632921%5Buid%5D
SanfilippoIIICIIIBIIIAIncidenceForm of mucopolysaccharidosisKnown as mucopolysaccharidosisTreatment of mucopolysaccharidosisDeficiencySyndromeMPSsPompe DiseaseMildEnzyme replaceDisordersGeneticMutationsClinicalSulfamidasePatientsSymptomsHeparanType IIIDiagnosisOral manifestations1997ImpairmentChildrenIndividuals2021TherapyDisease1998PresentationPatientGrowthPhase IIIDiseases
Sanfilippo12
  • Severe neurological impairment also occurs and is usually associated with Hurler syndrome (mucopolysaccharidosis IH), Hunter syndrome (mucopolysaccharidosis II) , and Sanfilippo syndrome (mucopolysaccharidosis III). (medscape.com)
  • In 1963, mucopolysaccharidosis III, also now known as Sanfilippo syndrome, was described at the American Pediatric Society Annual Meeting by pediatrician Sylvester Sanfilippo. (medscape.com)
  • Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the brain and spinal cord (central nervous system). (medlineplus.gov)
  • Mucopolysaccharidosis III (MPS III) Disease (Sanfilippo Syndrome). (medscape.com)
  • Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). (medscape.com)
  • Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. (wikipedia.org)
  • In our body, the autosomal recessive lysosomal storage dis-order , MPS III-A (Mucopolysaccharidosis III-A) , aka Sanfilippo A Syndrome, is a mucolipidosis subtype mucopolysaccharidosis type 3 (sanfilippo syndrome) , characterized by an excess accumulation of heparan sulfate due to impaired degradation, indicative to a specific set of signs, symptoms or other health indicators, associated with a health challenge. (wellnessadvocate.com)
  • Mucopolysaccharidosis type III (Sanfilippo syndrome, MPS III), is a lysosomal storage disorder traditionally considered to be characterized by childhood onset, progressive neurocognitive deterioration with a rapidly or slowly progressing phenotype. (biomedcentral.com)
  • Mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome), an autosomal recessive lysosomal storage disorder which is primarily characterized by progressive neurocognitive deterioration, is nowadays divided in a rapidly progressing and slowly progressing phenotype [ 1 ]. (biomedcentral.com)
  • To study the causes for the negative energy balance associated with cachexia, we assessed the impact of sulfamidase deficiency and heparan sulfate storage on energy homeostasis and metabolism in a mouse model of type IIIa mucopolysaccharidosis (MPS IIIa, Sanfilippo A syndrome). (wustl.edu)
  • Mucopolysaccharidosis type III, or Sanfilippo syndrome, is an autosomal recessive disorder characterized by impairment in the degradation of Heparan sulfate. (elsevierpure.com)
  • MPS III (mucopolysaccharidosis) is the official name for Sanfilippo Syndrome . (curesanfilippofoundation.org)
IIIC2
  • MPS III is divided into types IIIA, IIIB, IIIC, and IIID, which are distinguished by their genetic cause. (medlineplus.gov)
  • Fan X, Tkachyova I, Sinha A, Rigat B, Mahuran D. Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIIC. (medscape.com)
IIIB4
  • In 1999, Meikle and others cited a prevalence of mucopolysaccharidosis IIIA of 1 in 114,000 live births and the prevalence of mucopolysaccharidosis IIIB as 1 in 211,000 live births. (medscape.com)
  • Enhanced degradation of synaptophysin by the proteasome in mucopolysaccharidosis type IIIB. (medscape.com)
  • Hamano K, Hayashi M, Shioda K, Fukatsu R, Mizutani S. Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue. (medscape.com)
  • Twelve patients from six families, with a median age at diagnosis of 43 years (range 3-68) were included (11 MPS IIIA, 1 MPS IIIB). (biomedcentral.com)
IIIA3
  • In this study, mucopolysaccharidosis IIIA had an estimated birth prevalence of 1.16 cases per 100,000 newborns. (medscape.com)
  • The different types of MPS III have similar signs and symptoms, although the features of MPS IIIA typically appear earlier in life and progress more rapidly. (medlineplus.gov)
  • Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. (medscape.com)
Incidence9
  • however, the estimated combined incidence of all types of mucopolysaccharidoses is 1 in 20,000 live births. (medscape.com)
  • Mucopolysaccharidosis III is considered the most common of these genetic disorders, occurring with an incidence of 1 in 70,000 newborns. (medscape.com)
  • [ 7 ] In 1999, Poorthuis and others reported an incidence of 4.5 cases per 100,000 live births for all mucopolysaccharidosis disorders in the Netherlands. (medscape.com)
  • [ 8 ] Within this incidence, mucopolysaccharidosis III accounted for 47% of all cases of mucopolysaccharidoses, with a prevalence of 1.89 cases per 100,000 live births. (medscape.com)
  • Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. (medscape.com)
  • Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic. (medscape.com)
  • Malm G, Lund AM, Mansson JE, Heiberg A. Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. (medscape.com)
  • Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. (medscape.com)
  • The incidence of MPS III (all four types combined) is estimated to be 1 in 70,000 births. (globalgenes.org)
Form of mucopolysaccharidosis1
  • The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness. (medscape.com)
Known as mucopolysaccharidosis1
  • Mucopolysaccharidosis V is defined as a form of type I and is known as mucopolysaccharidosis IS. (medscape.com)
Treatment of mucopolysaccharidosis2
  • Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI. (ac.ir)
  • On 19 November 2014, orphan designation (EU/3/14/1359) was granted by the European Commission to Plexcera Therapeutics EU Limited, Ireland, for pentosan polysulfate sodium for the treatment of mucopolysaccharidosis type I. (europa.eu)
Deficiency6
  • The mucopolysaccharidoses (MPSs) are a rare group of inherited lysosomal storage disorders that are caused by the deficiency or absence of specific lysosomal enzymes. (medscape.com)
  • Deficiency in these enzymes lead to the four subtypes of MPS III. (wikipedia.org)
  • MPS III is caused by a deficiency of one of four enzymes involved in the stepwise degradation of the glycosaminoglycan (GAG) heparan sulfate (HS) [ 2 ]. (biomedcentral.com)
  • MPS III is a lysosomal storage disease, a group of rare inborn errors of metabolism resulting from deficiency in normal lysosomal function. (globalgenes.org)
  • Our research led to licensing two drugs worldwide for LSDs: Sebelipase Alfa for lysosomal acid lipase deficiency (LAL-D) and Elosulfase Alfa for mucopolysaccharidosis (MPS) IVA (Morquio A syndrome), marketed by Alexion Pharmaceuticals and Biomarin Pharmaceuticals, respectively. (manchester.ac.uk)
  • Literature review: mucopolysaccharidosis is an inherited metabolic disorder caused by innate errors of metabolism, which cause the deficiency of lysosomal enzymes that degrade glycosaminoglycans and cause their accumulation within different tissues and organs. (bvsalud.org)
Syndrome4
  • Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients. (medscape.com)
  • High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome). (medscape.com)
  • Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disorder, resulting from the deficient activity of the lysosomal enzyme arylsulfatase B (ARSB). (ac.ir)
  • AIDS-like syndrome: AIDS-like disease (illness) (syndrome) ARC AIDS-related complex Pre-AIDS AIDS-related conditions Prodromal-AIDS 3. (cdc.gov)
MPSs1
  • Mucopolysaccharidoses (MPSs) are a heterogenous and rare group of lysosomal storage disorders. (eyewiki.org)
Pompe Disease5
  • Build newborn screening laboratory capacity to screen for new Recommended Uniform Screening Panel (RUSP) conditions: Pompe Disease, Mucopolysaccharidosis Type 1 (MPS-1), X-linked Adrenoleukodystrophy (X-ALD), and Spinal Muscular Atrophy (SMA). (cdc.gov)
  • Arizona will increase the laboratory capacity to screen for two lysosomal storage disorders, Pompe Disease and Mucopolysaccharidosis Type-1 (MPS-1). (cdc.gov)
  • These activities will enable the state to move ahead with implementing Pompe Disease and Mucopolysaccharidosis Type I (MPSI) in Texas. (cdc.gov)
  • who were not receiving therapy for 2?weeks (2 with Pompe disease and 1 with mucopolysaccharidosis type II) reported increased fatigue and walking troubles. (informationalwebs.com)
  • Coming in at number 3 is alglucosidase alfa ( Lumizyme , Sanofi-Genzyme), approved in 2010 to treat late-onset Pompe disease in children aged 8 years and older. (medscape.com)
Mild6
  • Early signs and symptoms of MPS III can include frequent ear and throat infections or bowel problems, though most common are mild developmental delay or delayed speech. (medlineplus.gov)
  • Some people with MPS III have short stature, joint stiffness, or mild dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. (medlineplus.gov)
  • Mild feline mucopolysaccharidosis type VI. (nih.gov)
  • The presented MPS III case series demonstrates adult onset phenotypes with mild cognitive impairment or non-neuronopathic phenotypes. (biomedcentral.com)
  • In this case series all adult MPS III patients with a mild- or non-neuronopathic phenotype, who attend the outpatient clinic of 3 expert centers for lysosomal storage disorders were included. (biomedcentral.com)
  • We show the very mild end of the phenotypic spectrum of MPS III, ranging from late-onset stable neurocognitive impairment to a fully non-neuronopathic phenotype. (biomedcentral.com)
Enzyme replace1
  • Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy. (medscape.com)
Disorders5
  • In later stages of the disorder, people with MPS III may develop seizures, loss of mobility, and movement disorders. (medlineplus.gov)
  • Conditions such as MPS III that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. (medlineplus.gov)
  • The mucopolysaccharidoses comprise a group of 7 metabolic disorders, known as mucopolysaccharidoses types I-VII. (medscape.com)
  • PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia-intellectual disability, and adult stable disability. (nih.gov)
  • Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small amount or it is missing altogether. (mpstarsasag.hu)
Genetic2
  • Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. (ac.ir)
  • DLS offers, again, free-- three free-- e-learning courses related to genetic testing, good laboratory practices for molecular genetic testing, good laboratory practice recommendations for biochemical, genetic testing, pre-analytic phase, and establishment and validation of new tests using liquid chromatography, and biochemical genetic laboratories. (cdc.gov)
Mutations4
  • Variants (also called mutations) in the GNS , HGSNAT , NAGLU , and SGSH genes cause MPS III. (medlineplus.gov)
  • In direct DNA sequencing, we detected four different homozygous mutations in different exons, three of which seem not to have been reported previously: p.H178N, p.H242R, and p.*534W. (ac.ir)
  • Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. (ac.ir)
  • Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. (nih.gov)
Clinical6
  • Kakkis E, Wraith E. Clinical features and diagnosis of the mucopolysaccharidoses. (medscape.com)
  • Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study. (ac.ir)
  • 7. Saito S, Ohno K, Sugawara K, Sakuraba H. Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI. (ac.ir)
  • Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series. (ac.ir)
  • Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II. (krabbes.org)
  • The clinical study is supported by neurocognitive evaluations, biochemical assessments and MRI data generated in a 25-subject MPS III Natural History Study, also conducted at Nationwide Children's Hospital, where patients continued through one-year of follow up assessments. (globalgenes.org)
Sulfamidase1
  • Årsaken kan være enten mangel på enzymet heparan-N-sulfatase (sulfamidase) (ved MPS III type A), mangel på enzymet alfa-N-acetylglucosaminidase (ved MPS III type B), acetyl coenzym A:alfa-glucosaminid acetyltransferase (ved MPS III type C), N-acetylglucosamin-6-sulfatase (ved MPS III type D) og N- glucosamin 3-O-sulfatase (ved MPS III E). Avleiringene som følger av opphopning av heparansulfat skader i sær sentralnervesystemet. (frambu.no)
Patients11
  • As a result of these differing enzyme deficiencies, there is an increase in the urinary excretion of heparan sulfate in patients with mucopolysaccharidosis type III. (medscape.com)
  • Nakarat T, Läßig AK, Lampe C, Keilmann A. Alterations in speech and voice in patients with mucopolysaccharidoses. (medscape.com)
  • All three novel substitutions were found in patients with Iranian breed. (ac.ir)
  • Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients. (ac.ir)
  • Mucopolysaccharidosis (MPS): Review of the literature and case series of five pediatric dental patients. (bvsalud.org)
  • Growth velocity has not yet been described in MPS III patients. (symptoma.com)
  • The objective of this trial is to evaluate oral genistein aglycone therapy in patients between 2 and 15 years old with MPS III A, B or C. (mangen.co.uk)
  • Final considerations: there are countless oral manifestations, so the professional is required to know mucopolysaccharidoses and monitor patients from childhood to adulthood, aiming to offer prevention, oral health maintenance, and specialized and multidisciplinary care. (bvsalud.org)
  • La base de données consacrée à l'administration des patients et à l'activité biostatistique a été interrogée pour l'ensemble des patients de moins de 15 ans qui avaient consulté à l'hôpital de campagne militaire marocain dans la Bande de Gaza entre novembre 2012 et février 2013 et les données obtenues ont été passées en revue. (who.int)
  • Les patients pédiatriques souffrant de traumatismes potentiellement fatals constituent une partie de la responsabilité première des établissements de santé militaires en temps de guerre. (who.int)
  • 9. Galsulfase ( Naglazyme , Biomarin Phamaceutical), approved in 2005 to improve walking and stair-climbing capacity of patients with mucopolysaccharidosis VI . (medscape.com)
Symptoms4
  • People with MPS III generally do not display any features of the condition at birth, but they begin to show signs and symptoms of the disorder during early childhood . (medlineplus.gov)
  • Signs & Symptoms Children with MPS III usually appear healthy at birth, but developmental delay is usually evident by age 2-5 years. (symptoma.com)
  • The patient has a clinically significant organic disease (with the exception of symptoms relating to MPS III A or B or C) including: cardiovascular, hepatic, pulmonary, neurologic, or renal disease, other serious intercurrent illness, or extenuating circumstances that, in the opinion of the Investigator, would preclude participation in the trial or potentially decrease survival. (mangen.co.uk)
  • In MPS III, the predominant symptoms occur due to accumulation within the central nervous system (CNS), including the brain and spinal cord, resulting in cognitive decline, motor dysfunction, and eventual death. (globalgenes.org)
Heparan2
  • It is unknown why the buildup of heparan sulfate mostly affects the central nervous system in MPS III. (medlineplus.gov)
  • Children with MPS III are missing an enzyme, which is essential in breaking down the used mucopolysaccharides called heparan sulfate. (globalgenes.org)
Type III5
  • Currently, drug therapy is not part of the standard of care for mucopolysaccharidosis (MPS) type III. (medscape.com)
  • Children with MPS type III often have an increased tolerance to pain. (wikipedia.org)
  • Bumps, bruises, or ear infections that would be painful for other children often go unnoticed in children with MPS type III. (wikipedia.org)
  • Some children with MPS type III may have a blood-clotting problem during and after surgery. (wikipedia.org)
  • Basert på studier antar vi at forekomsten av mukopolysakkaridose type III (MPS III, Sanfilippos sykdom) er ca. 0.17-2.35 per 100,000 i befolkningen (2). (frambu.no)
Diagnosis1
  • Recent advances in the prenatal diagnosis of the mucopolysaccharidoses. (medscape.com)
Oral manifestations1
  • Oral manifestations vary according to the type of mucopolysaccharidosis and are of major importance. (bvsalud.org)
19971
Impairment1
  • Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II. (krabbes.org)
Children8
  • Children with MPS III may have an increased tendency to chew on objects or put things in their mouth (be hyperoral). (medlineplus.gov)
  • Sleep disturbances are also very common in children with MPS III. (medlineplus.gov)
  • Children with mucopolysaccharidoses--three cases report. (medscape.com)
  • Perenc L. Anthropometric characteristics of four Polish children with mucopolysaccharidosis. (medscape.com)
  • Standalone cranio-cervical decompression is feasible in children with mucopolysaccharidosis type I, IVA and VI. (ac.ir)
  • The management of children with mucopolysaccharidosis (MPS) is a challenge for the anesthesiologist, primarily because of difficult airways. (ispub.com)
  • 160 Palestinians were killed, among tients who attended the military field surgery were beyond the scope of the them 33 children, 13 women and 3 hospital during the study period were study. (who.int)
  • These children usually die by age 2 or 3. (msdmanuals.com)
Individuals1
  • Corneal opacities, such as corneal clouding, are not usually present in individuals with MPS III. (symptoma.com)
20212
Therapy3
  • Therapy for the mucopolysaccharidoses. (medscape.com)
  • Replacement therapy in mucopolysaccharidosis type VI: advantages of early onset of therapy. (ac.ir)
  • For most LDSs specific remedies, comprising infusions of enzyme substitute therapy (ERT), or dental drugs (substrate decrease therapy, chaperones) can be found, and need regular administration to work [2,3] The Regional Coordinating Middle for Rare Illnesses (RCCRD) of Udine (North East Italy), is among the main recommendation centers for LSDs in Italy, with an increase of than 150 sufferers coming from all of the nationwide territory. (informationalwebs.com)
Disease1
  • Natural progression of neurological disease in mucopolysaccharidosis type II. (krabbes.org)
19981
Presentation1
  • Presentation of Mucopolysaccharidosis As Very Early Onset Schizophrenia Like Illness in Psychiatry Settings. (symptoma.com)
Patient2
  • This may reflect the large amount of cold solute absorbed by the patient and confirmed by the Na measurement of 109 mEq/L. A decrease in serum Na of 20-30 mEq/L (preoperative Na was 138 mEq/L) implies absorption of 3-4 liters of fluid (dilutional hyponatremia) ( 2 ). (ispub.com)
  • Objective: to perform a literature review on mucopolysaccharidosis addressing systemic characteristics associated with oral features, thus allowing a proper dental treatment and a better quality of life of the patient. (bvsalud.org)
Growth1
  • Longitudinal changes in linear growth and BMI in the mucopolysaccharidoses. (medscape.com)
Phase III1
  • A Global Phase III multicenter, randomized, assessor-blinded, active-controlled designed to evaluate safety and efficacy of study drug for the treatment of the MPS II. (onempsvoice.com)
Diseases2
  • Mucopolysaccharidosis type I (MPS I) is one of a group of inherited diseases caused by the lack of certain enzymes in lysosomes (structures in the body's cells that break down nutrients and other substances) that are needed to break down substances in the body called glycosaminoglycans (GAGs). (europa.eu)
  • Lysosomal Storage Diseases, 6(3), 71-79. (krabbes.org)

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