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.
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.
Therapeutic replacement or supplementation of defective or missing enzymes to alleviate the effects of enzyme deficiency (e.g., GLUCOSYLCERAMIDASE replacement for GAUCHER DISEASE).
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 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 characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
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.
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.
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.
An enzyme that hydrolyzes iduronosidic linkages in desulfated dermatan. Deficiency of this enzyme produces Hurler's syndrome. EC 3.2.1.76.
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.
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.
A group of enzymes that catalyze the hydrolysis of various sulfate bonds of chondroitin sulfate. EC 3.1.6.-.
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.
Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine or N-acetylgalactosamine.

Hunter's syndrome and associated sleep apnoea cured by CPAP and surgery. (1/112)

A 42-yr-old male with Hunter's syndrome presented with severe obstructive sleep apnoea syndrome (OSAS) and daytime respiratory failure. Continuous positive airway pressure (CPAP) therapy was initially ineffective and produced acute respiratory distress. Extensive Hunter's disease infiltration of the upper airway with a myxoma was confirmed. Following surgery to remove the myxoma at the level of the vocal cords, CPAP therapy was highly effective and well tolerated. This report demonstrates the necessity of evaluating fully the upper airway in patients with unusual variants of OSAS, particularly where the disease is not adequately controlled by CPAP.  (+info)

Elimination of lysosomal storage in brains of MPS VII mice treated by intrathecal administration of an adeno-associated virus vector. (2/112)

Mucopolysaccharidosis type VII (MPS VII) is an inherited lysosomal storage disease caused by insufficient beta-glucuronidase (GUS). To provide gene therapy in a mutant mouse model of this disease, we have used a recombinant adeno-associated virus (rAAV) vector to deliver GUS cDNA to a variety of tissues. Although intravenous administration of vector produced therapeutic levels of GUS in the liver, delivery to the brain was inadequate. To improve delivery to the brain intrathecal injection of the vector into the cerebrospinal fluid was employed. This route of administration to either neonatal or adult mutant mice resulted in therapeutic levels of GUS in the brain and the elimination of storage granules in brain tissue.  (+info)

The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals. (3/112)

Deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS) is responsible for mucopolysaccharidosis type II (OMIM 309900). The IDS gene (Xq28) has been completely sequenced (accession number L35485). Northern blot analysis of poly(A(+)) RNA from different tissues, hybridized with the total IDS cDNA, has revealed three major species of 2.1, 5.4 and 5.7 kb and one minor of 1.4 kb. The 1.4-kb mRNA has been previously described and we show that the three major IDS mRNA are the result of alternative polyadenylation site selection: a non-canonical ATTAAA signal at genomic position 23631 for the 2.1-kb mRNA, a AATAAA signal at position 27156 for the 5.4-kb mRNA and a AATAAA signal at position 27399 for the 5.7-kb mRNA. The different IDS mRNA encode for the same polypeptide and the most abundant transcripts have a long 3'-untranslated region (3'-UTR). The absence of obvious correlation between transcripts content and size, IDS protein amount and IDS activity in the four human fetal tissues tested suggests that it is IDS protein processing that may be regulated rather than IDS gene transcription.  (+info)

Enzyme replacement therapy by fibroblast transplantation: long-term biochemical study in three cases of Hunter's syndrome. (4/112)

We have assessed the effectiveness of transplanted histocompatible fibroblasts as a long-lived source of lysosomal enzymes for replacement therapy in three patients with Hunter's syndrome, over periods ranging from 2.5 to 3.75 yr. The level of Hunter corrective factor excreted by all three patients increased after transplantation, as did the activity of alpha-L-idurono-2-sulfate sulfatase in serum, when measured directly with a radioactive disulfated disaccharide substrate. Sulfatase activity was also raised in leukocyte homogenates from the two patients that we were able to assess. These increases in enzyme activity were accompanied by corresponding increases in catabolism of heparan and dermatan sulfates, as shown by (a) a decrease in sulfate:uronic ratios of urinary oligosaccharides, (b) an increase in iduronic acid monosaccharide, and (c) a normalization of Bio-Gel P-2 gel filtration profiles. Both the increase in enzyme activity and increased catabolism were maintained during the period of study and were not affected by either a gradual decrease or total withdrawal of immunosuppressive therapy.  (+info)

Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes. (5/112)

Iduronate sulfatase, the enzyme deficient in Hunter syndrome, can be readily measured in individual hair roots. Samples from Hunter syndrome hemizygotes had activities at or near the limits of detection. Samples from two mothers of Hunter syndrome patients, one an obligate heterozygote, had lower average iduronate sulfatase activity than the normal mean, and a significant number of hair roots had activity in the pathognomic range. A third mother showed a normal distribution of enzyme activity, and no hair roots were in the range of those from an affected individual. These results are similar to studies on the distribution of other X-linked enzymes in individual hair root samples from heterozygotes. This suggests that hair root iduronate sulfatase assessment is useful in the detection of Hunter syndrome carrier status, but further refinement of the test system is necessary.  (+info)

Detection of hunter heterozygotes by enzymatic analysis of hair roots. (6/112)

We have developed a procedure for testing iduronate sulfatase, the enzyme deficient in Hunter syndrome, in single hair roots. Beta-Hexosaminidase was used as the reference enzyme. The ratio of iduronate sulfatase to beta--hexosaminidase, expressed in arbitrary units of activity, is near zero for Hunter patients and greater than 0.6 in almost all roots of normal individuals. Hair roots of Hunter heterozygotes show a characteristic continuum of activity ratios, ranging from totally deficient up to and including the normal range. The results are consistent with the origin of hair roots from a small number of progenitor cells which obey the Lyon hypothesis. The proportion of roots with low activity can be used to discriminate between normal and heterozygous individuals.  (+info)

Donor bone marrow from a sibling with inborn error of metabolism for treatment of acute leukaemia - clinical and biochemical consequences in the non-affected recipient. (7/112)

Bone marrow transplantation (BMT) is increasingly used in an attempt to correct inborn errors of metabolism (IEM). However, little is known about effects of BMT from patients with IEM donating for non-affected recipients. We present data from a 8.5-year-old girl who underwent BMT in second remission for relapsed acute lymphoblastic leukaemia (ALL) at the age of 7 years from her HLA-identical brother who was severely affected by Hunter syndrome (Mucopolysaccharidosis type II, iduronate-2-sulphatase (IDS) deficiency). After BMT not only leukocyte but also plasma activity of IDS was absent. Mixing experiments and immunoadsorption suggest antibody-mediated enzyme inhibition. However, her urinary glycosaminoglycan excretion has not increased post BMT and clinical signs of mucopolysaccharidosis are absent 20 months after BMT. We conclude that patients with white cell enzyme deficiencies and other IEMs do not have to be excluded from bone marrow donation. Antibody production by the graft may occur and be reflected by a marked reduction in plasma enzyme levels but not tissue activity. Similar antibody responses resulting in enzyme inactivation might also affect other enzyme replacement strategies for individuals with IEM.  (+info)

Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia. (8/112)

This report describes unrelated umbilical cord blood transplantation for a 10-month-old infant boy with mucopolysaccharidosis IIB (Hunter syndrome), an X-linked metabolic storage disorder due to deficiency of iduronate sulfatase. Two years after transplant approximately 55% normal plasma enzyme activity has been restored and abnormal urinary excretion of glycosaminoglycans has nearly completely resolved. The boy has exhibited normal growth and development after transplant. Nine months after transplant he developed severe autoimmune hemolytic anemia and required 14 months of corticosteroid treatment to prevent clinically significant anemia. Bone marrow transplantation for Hunter syndrome and post-transplant hemolytic anemia are reviewed. Bone Marrow Transplantation (2000).  (+info)

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.

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.

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.

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 (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 (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 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.

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 (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 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 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 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.

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.

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.

Glycosaminoglycans (GAGs) are long, unbranched polysaccharides composed of repeating disaccharide units. They are a major component of the extracellular matrix and connective tissues in the body. GAGs are negatively charged due to the presence of sulfate and carboxyl groups, which allows them to attract positively charged ions and water molecules, contributing to their ability to retain moisture and maintain tissue hydration and elasticity.

GAGs can be categorized into four main groups: heparin/heparan sulfate, chondroitin sulfate/dermatan sulfate, keratan sulfate, and hyaluronic acid. These different types of GAGs have varying structures and functions in the body, including roles in cell signaling, inflammation, and protection against enzymatic degradation.

Heparin is a highly sulfated form of heparan sulfate that is found in mast cells and has anticoagulant properties. Chondroitin sulfate and dermatan sulfate are commonly found in cartilage and contribute to its resiliency and ability to withstand compressive forces. Keratan sulfate is found in corneas, cartilage, and bone, where it plays a role in maintaining the structure and function of these tissues. Hyaluronic acid is a large, nonsulfated GAG that is widely distributed throughout the body, including in synovial fluid, where it provides lubrication and shock absorption for joints.

In World War II, the Belgian Resistance used the dogs to run messages between various resistance hideouts and cells, to which ... "Mucopolysaccharidosis (MPS) IIIB". UPenn School of Veterinary Medicine. "New DNA-based Test for Inherited Diseases in ... Clinical signs appear between two and four years of age, and there are no known cures or treatments. The disease affects ... Of the 36 deceased dogs in the survey, the oldest dog was 17+1⁄2 years old. There is a known case where a Schipperke lived to ...
"Mucopolysaccharidosis type I". "Glycogenosis type II and Pompe's disease". Archived from the original on 23 November 2015. " ... Other causes include mucopolysaccharidosis, neurofibromatosis, multiple endocrine neoplasia type 2B, myxedema, acromegaly, ... 61 (2): 63-9. doi:10.1111/j.1875-595x.2011.00015.x. PMID 21554274. Prada, CE; Zarate, YA; Hopkin, RJ (February 2012). "Genetic ... 129 (2): e431-7. doi:10.1542/peds.2011-1732. PMID 22250026. S2CID 13148577. Merck Manual 17th Ed. Dios, Pedro Diz; Posse, ...
She has contributed to articles on the management of mucopolysaccharidosis type II (Hunter syndrome) and assessment of ... To identify which patients with mucopolysaccharidosis type II (Hunter syndrome) have the severe neurodegenerative form of the ... Holt JB, Poe MD, Escolar ML (May 2011). "Natural progression of neurological disease in mucopolysaccharidosis type II". ... "Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II". J Pediatr. 159 (2): 320-6. doi: ...
... , or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder in which large sugar molecules called ... "A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)". ... March 2008). "Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era ... A phase II/III clinical trial began in 2014. In 2017, a 44-year-old patient with MPS II was treated with gene therapy in an ...
Sukegawa K, Tomatsu S, Fukao T, Iwata H, Song XQ, Yamada Y, Fukuda S, Isogai K, Orii T (1995). "Mucopolysaccharidosis type II ( ... Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked mucopolysaccharidosis type II, ... GeneReviews/NIH/NCBI/UW entry on Mucopolysaccharidosis Type II Portal: Biology v t e (Articles with short description, Short ... Jonsson JJ, Aronovich EL, Braun SE, Whitley CB (Mar 1995). "Molecular diagnosis of mucopolysaccharidosis type II (Hunter ...
Hunter syndrome has two clinical subtypes and (since it shows X-linked recessive inheritance) is the only one of the ... while approximately 1 in 500,000 newborns will experience attenuated mucopolysaccharidosis type I. Most mucopolysaccharidoses ... Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these ... The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disorders that ...
Examples include Gaucher disease, Fabry disease, Mucopolysaccharidoses and Glycogen storage disease type II. Such treatments ... Medical genetics was a late developer, emerging largely after the close of World War II (1945) when the eugenics movement had ... 33 (2): 177-182. doi:10.1038/ng1071. PMID 12524541. S2CID 6850292. Weiss KM, Terwilliger JD (2000). "How many diseases does it ... 26 (2): 151-157. doi:10.1038/79866. PMID 11017069. S2CID 685795. Cardon LR, Abecasis GR (2003). "Using haplotype blocks to map ...
Hunter syndrome (MPS II) Sanfilippo syndrome (MPS III) Morquio syndrome (MPS IV) "Mucopolysaccharidoses Fact Sheet". National ... They will produce less α-L-iduronidase than an individual with two normal copies of the gene. The reduced production of the ... Children with Scheie Syndrome carry two defective copies of the IDUA gene, which has been mapped to the 4p16.3 site on ... It is the most mild subtype of mucopolysaccharidosis type I; the most severe subtype of this disease is called Hurler Syndrome ...
"Characterization of knee alignment in children with mucopolysaccharidosis types I and II and outcome of treatment with guided ... A variety of metal implants have been used to perform temporary hemiepiphysiodesis or guided growth surgery as a two-hole plate ... There are two types of epiphysiodesis: temporary hemiepiphysiodesis and permanent epiphysiodesis. Temporary hemiepiphysiodesis ...
1995). "Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)". Hum. ... 1994). "Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis ... 1995). "Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients". Hum. Mol. Genet. 4 ... 1995). "Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate ...
Mucopolysaccharidosis Hurler syndrome (MPS I) Hunter syndrome (MPS II) Morquio syndrome (MPS IV) List of neurological ... People with two working copies of the gene are unaffected. People with one working copy are genetic carriers of Sanfilippo ... People with two defective copies will develop Sanfilippo syndrome. Glycosaminoglycans (GAGs) are chains of sugar molecules. ... "Mucopolysaccharidosis type III". Genetics Home Reference. March 2017. Retrieved 22 July 2018. "A Guide to Understanding MPS III ...
... and mucopolysaccharidosis type II (Hunter Syndrome). The FDA granted Sangamo fast track designation for SB-525, a gene therapy ... "Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II - Full Text ... Sangamo applies technology to treat haemophilia B and lysosomal storage diseases including mucopolysaccharidosis type I (Hurler ... Therapeutic SB-913 in Subjects With MPS II". ClinicalTrials.gov. U.S. National Library of Medicine. Retrieved February 7, 2019 ...
"Mucopolysaccharidosis type VII". United States National Library of Medicine. 25 June 2019. Retrieved 2 July 2019. "A Guide to ... Sly syndrome, also called mucopolysaccharidosis type VII (MPS-VII), is an autosomal recessive lysosomal storage disease caused ... McCafferty, EH; Scott, LJ (April 2019). "Vestronidase alfa: A review in mucopolysaccharidosis VII". BioDrugs. 33 (2): 233-240. ... and biochemical features of a new mucopolysaccharidosis". J. Pediatr. 82 (2): 249-57. doi:10.1016/S0022-3476(73)80162-3. PMID ...
502 It is similar to mucopolysaccharidosis. Symptoms of this disorder commonly appear between one and two years of age. ... A disease comprising mucopolysaccharidosis, sphingolipidosis, and more caused by a defect in posttranslational modification". ... 2 (3): 189-218. doi:10.1007/BF02834352. PMID 6152665. S2CID 36099212. Cosma MP, Pepe S, Annunziata I (May 2003). "The multiple ... 82 (2): 271-8. doi:10.1016/0092-8674(95)90314-3. PMID 7628016. S2CID 5864312. Soong BW, Casamassima AC, Fink JK, ...
DNA glycosylases Mucopolysaccharidoses "ENZYME class: 3.2.1". enzyme.expasy.org. SIB Swiss Institute of Bioinformatics. June ... are targeted by alpha-glucosidase inhibitors such as acarbose and miglitol to control diabetes mellitus type 2. ...
Participants received treatment with vestronidase alfa at doses up to 4 mg/kg once every two weeks for up to 164 weeks. ... Mepsevii is indicated for the treatment of non-neurological manifestations of Mucopolysaccharidosis VII (MPS VII; Sly syndrome ... Two participants in the vestronidase alfa development program experienced marked improvement in pulmonary function. Overall, ... vestronidase alfa or placebo were given once every two weeks as intravenous (IV) infusions. Neither participants nor healthcare ...
... disorder of glycosylation MOMO syndrome Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7 Mucopolysaccharidosis, MPS-II ... Relative macrocephaly occurs if the measure is less than two SDs above the mean, but is disproportionately above that when ... Mucopolysaccharidosis, MPS-III-D Muenke syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple congenital anomalies- ... Sotos syndrome Sturge-Weber syndrome Weaver syndrome Wiedemann-Rautenstrauch syndrome 3C syndrome Glutaric aciduria type II GM1 ...
... mucopolysaccharidosis ii MeSH C10.597.606.643.455.875 - pyruvate dehydrogenase complex deficiency disease MeSH C10.597.606.643. ... glycogen storage disease type ii MeSH C10.228.140.163.100.435.590 - mucolipidoses MeSH C10.228.140.163.100.435.810 - sialic ... neurofibromatosis 2 MeSH C10.292.225.800 - optic nerve neoplasms MeSH C10.292.225.800.500 - optic nerve glioma MeSH C10.292. ... neurofibromatosis 2 MeSH C10.551.775.500 - nerve sheath neoplasms MeSH C10.551.775.500.500 - neurilemmoma MeSH C10.551.775.500. ...
... mucopolysaccharidosis I MeSH C18.452.648.202.715.645 - mucopolysaccharidosis II MeSH C18.452.648.202.715.650 - ... mucopolysaccharidosis I MeSH C18.452.648.595.600.645 - mucopolysaccharidosis II MeSH C18.452.648.595.600.650 - ... mucopolysaccharidosis VI MeSH C18.452.648.202.715.675 - mucopolysaccharidosis VII MeSH C18.452.648.202.720 - multiple ... mucopolysaccharidosis VI MeSH C18.452.648.595.600.675 - mucopolysaccharidosis VII MeSH C18.452.648.595.803 - sphingolipidoses ...
... mucopolysaccharidosis I MeSH C16.320.565.202.715.645 - mucopolysaccharidosis II MeSH C16.320.565.202.715.650 - ... mucopolysaccharidosis I MeSH C16.320.565.580.600.645 - mucopolysaccharidosis II MeSH C16.320.565.580.600.650 - ... mucopolysaccharidosis II MeSH C16.320.322.500.875 - pyruvate dehydrogenase complex deficiency disease MeSH C16.320.322.500.937 ... mucopolysaccharidosis II MeSH C16.320.400.525.875 - pyruvate dehydrogenase complex deficiency disease MeSH C16.320.400.525.937 ...
Mucopolysaccharidosis type II (Hunter syndrome) Niemann-Pick disease Non-infiltrative Idiopathic Diabetic cardiomyopathy ... 104 (2): 618-620. doi:10.1378/chest.104.2.618. ISSN 0012-3692. PMID 8339658. Gertz, Morie A.; Falk, Rodney H.; Skinner, Martha ... 2-dimensional and Doppler studies are necessary to distinguish RCM from constrictive pericarditis. Cardiac MRI and transvenous ... 2 (5): 431-438. doi:10.1007/s11936-000-0038-6. ISSN 1092-8464. PMID 11096547. S2CID 45162583. Hulten, Edward; Aslam, Saira; ...
... form Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7 Sly syndrome Mucopolysaccharidosis ... Sialidosis type II (congenital) Sialidosis type II (infantile) Sialuria syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi- ... Acromegaly Alpha-mannosidosis type II Aspartylglycosaminuria Battaglia Neri syndrome Börjeson-Forssman-Lehmann syndrome ... type I Hurler syndrome Mucopolysaccharidosis type I Hurler/Scheie syndrome Mucopolysaccharidosis type I Scheie syndrome ...
... mucopolysaccharidoses MeSH C17.300.550.575.640 - mucopolysaccharidosis i MeSH C17.300.550.575.645 - mucopolysaccharidosis ii ... mucopolysaccharidosis iv MeSH C17.300.550.575.670 - mucopolysaccharidosis vi MeSH C17.300.550.575.675 - mucopolysaccharidosis ... MeSH C17.300.550.575.650 - mucopolysaccharidosis iii MeSH C17.300.550.575.655 - ...
Wu BM, Sly WS (1994). "Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII". Human ... This hypothesis proposes that the two glutamic acid residues Glu540 and Glu451 are the nucleophilic and acidic residues, ... This homologous relationship, along with the knowledge that glycosidases often perform hydrolysis catalyzed by two acidic ... Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery ...
Clin Dysmorphol Vasilev F, Sukhomyasova A, Otomo T (2020) Mucopolysaccharidosis-plus syndrome. Int J Mol Sci 21(2) Pevsner J, ... This syndrome has since been named Mucopolysaccharidosis-plus syndrome. GRCm38: Ensembl release 89: ENSMUSG00000029434 - ... 183 (1-2): 7-14. doi:10.1016/S0378-1119(96)00367-8. PMID 8996080. Kim BY, Krämer H, Yamamoto A, Kominami E, Kohsaka S, Akazawa ... 264 (2): 241-7. doi:10.1016/S0378-1119(01)00333-X. PMID 11250079. "Entrez Gene: VPS33A vacuolar protein sorting 33 homolog A (S ...
Diabetes mellitus type II Ewing's sarcoma Familial hypercholesterolemia Hemophilia Leigh syndrome mucopolysaccharidosis VII ... Two main promoter "boxes" are found in Alu: a 5' A box with the consensus TGGCTCACGCC, and a 3' B box with the consensus ... Expressed another way, it is believed modern Alu elements emerged from a head to tail fusion of two distinct FAMs (fossil ... Jerzy Jurka and Temple Smith discovered that Alu elements were split in two major subfamilies known as AluJ (named after Jurka ...
Sato S, Zhu XL, Sly WS (1990). "Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient ... and biochemical features of a new mucopolysaccharidosis". J. Pediatr. 82 (2): 249-57. doi:10.1016/S0022-3476(73)80162-3. PMID ... Roth DE, Venta PJ, Tashian RE, Sly WS (1992). "Molecular basis of human carbonic anhydrase II deficiency". Proc. Natl. Acad. ... Sly also identified the first inherited deficiency of a human carbonic anhydrase, CA II, and defined the biochemical and ...
ML II) is a particularly severe form of ML that has a significant resemblance to another mucopolysaccharidosis called Hurler ... "mucolipidosis II" at Dorland's Medical Dictionary Plante M, Claveau S, Lepage P, et al. (March 2008). "Mucolipidosis II: a ... Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family ... Children with ML II eventually develop a clouding on the cornea of their eyes and, because of their lack of growth, develop ...
"Mucopolysaccharidosis type VI". MedlinePlus. Retrieved 25 February 2023. "Mucopolysaccharidoses Fact Sheet". National Institute ... People with two defective copies will have MPS-VI. A urinalysis will show elevated levels of dermatan sulfate in the urine. A ... People with two working copies of the gene are unaffected. People with one working copy are genetic carriers of Maroteaux-Lamy ... In December 2019, she was granted another deferral of two years. In December 2022, she was granted permission to stay in the U. ...
During his tenure at BioMarin, Kakkis guided the development and approval of two more treatments for rare disorders, MPS VI and ... in patients with mucopolysaccharidosis I. Molecular Genetics and Metabolism, 96(1); 13-19, 2009. Clarke, L.A., Wraith, J.E., ... for the rare disorder Mucopolysaccharidosis (MPS I). The struggle to get the therapy translated from a successful canine model ... Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochemical and ...
MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost ... medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-ii/ Mucopolysaccharidosis type II. ... Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the ... Scarpa M. Mucopolysaccharidosis Type II. 2007 Nov 6 [updated 2018 Oct 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace ...
MPS II), is a member of a group of inherited metabolic disorders collectively termed mucopolysaccharidoses (MPSs). The MPSs are ... encoded search term (Hunter Syndrome (Mucopolysaccharidosis Type II)) and Hunter Syndrome (Mucopolysaccharidosis Type II) What ... Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a member of a group of inherited metabolic disorders ... A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). ...
MPS II), is a member of a group of inherited metabolic disorders collectively termed mucopolysaccharidoses (MPSs). The MPSs are ... encoded search term (Hunter Syndrome (Mucopolysaccharidosis Type II)) and Hunter Syndrome (Mucopolysaccharidosis Type II) What ... Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a member of a group of inherited metabolic disorders ... A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). ...
Mucopolysaccharidosis Type II. In its most severe form Hunter disease (MPS II) resembles Hurler disease, but patients do not ... Presentation is usually between 2 and 5 years of age, with coarse facies, recurrent respiratory infections, stunted growth or ...
Mucopolysaccharidoses Type 1/2, Total Heparan Sulfate & NRE (Sensi-Pro) Quant, Urine (3003552). ...
MPS II), is a member of a group of inherited metabolic disorders collectively termed mucopolysaccharidoses (MPSs). The MPSs are ... encoded search term (Genetics of Mucopolysaccharidosis Type II) and Genetics of Mucopolysaccharidosis Type II What to Read Next ... A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). ... ERT is a life-long therapy that may improve the quality of life for patients with mucopolysaccharidosis type II (MPS II). ...
... except for mucopolysaccharidosis type II, which is X-linked. ... Mucopolysaccharidoses (MPSs) are a group of lysosomal storage ... A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). ... Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples. ... Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line. Prenat Diagn ...
Mucopolysaccharidosis type II, attenuated form , Mucopolysaccharidosis type IIB. Mucopolysaccharidosis type 2 attenuated form ( ... Project Alive exists to find and fund a cure for Hunter Syndrome (also known as Mucopolysaccharidosis or MPS II) through ... Mucopolysaccharidosis type 2, attenuated form?. Our RARE Concierge Services Guides are available to assist you by providing ... Mucopolysaccharidosis type 2, attenuated form. Get in touch with RARE Concierge.. Contact RARE Concierge ...
MPS II), is a member of a group of inherited metabolic disorders collectively termed mucopolysaccharidoses (MPSs). The MPSs are ... encoded search term (Genetics of Mucopolysaccharidosis Type II) and Genetics of Mucopolysaccharidosis Type II What to Read Next ... Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a member of a group of inherited metabolic disorders ... A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). ...
Enzyme replacement therapy with pabinafusp alfa for neuronopathic mucopolysaccharidosis II : an integrated analysis of ... Enzyme replacement therapy (ERT) improves somatic manifestations in mucopolysaccharidoses (MPS). However, because intravenously ... Enzyme replacement therapy (ERT) improves somatic manifestations in mucopolysaccharidoses (MPS). However, because intravenously ... subsequent clinical trials in a total of 62 patients with MPS-II (Hunter syndrome) in Japan and Brazil substantiated this dual ...
Pathology: mucopolysaccharidosis type II *309900 OMIM record - By selecting the cell line name, you will receive the detailed ...
Includes dosages for Mucopolysaccharidosis Type II; plus renal, liver and dialysis adjustments. ... Mucopolysaccharidosis II [MPS II]) Usual Pediatric Dose for Mucopolysaccharidosis Type II. 16 months or older:. 0.5 mg/kg IV ... Usual Adult Dose for Mucopolysaccharidosis Type II. 0.5 mg/kg IV once a week. Comment:. ... Mucopolysaccharidosis Type II. Usual Pediatric Dose for:. *Mucopolysaccharidosis Type II. Additional dosage information:. * ...
Central corneal thickness in mucopolysaccharidosis II and VI.. Ulrike Kottler, Deniz Demir, Irene Schmidtmann, Michael Beck, ... in patients with Type II and VI mucopolysaccharidosis (MPS) and its impact on applanation tonometry and glaucoma detection.. ... There were no substantial differences in refractive error between MPS II and MPS VI.. CONCLUSION: In our patients, CCT in MPS ... RESULTS: Median average corneal thickness was 534.5 microm (range, 491.5-579.0 microm) in the MPS II and 547.0 microm (range, ...
MPS II). The authors are from Shire Human Genetic Therapies, Inc. ... Mucopolysaccharidosis Type II, MPS II). The authors are from ... Mnemonic Screening Tool of Cohn et al for a Patient with Hunter Syndrome (Mucopolysaccharidosis Type II, MPS II). ... A Model 2 score , =6 correctly identified 95% of patients with Hunter syndrome ...
Golgi requires a new casting in the screenplay of mucopolysaccharidosis II cytopathology *Kinga Molnár ... AP-2-containing clathrin coats assemble on mature lysosomes. J. Cell Biol. 135, 1801-1814 (1996). ... Here we report that clathrin and phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2) regulate ALR. Combining a screen of ... P2 are the central components. Our functional study demonstrates the central role of clathrin and its associated proteins in ...
A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II. key information. ... Males aged 36-71 months old whose standard score by BSID-III or KABC-II is between 65-85 at screening; OR. Males aged 30-35 ... Regenxbio Presents Positive Initial Data From Phase I/II Trial Of Rgx-111 for the Treatment of Severe MPS I at 18th ... ... The symptoms of Mucopolysaccharidosis and the treatments that are available vary depending on which type of ...
In World War II, the Belgian Resistance used the dogs to run messages between various resistance hideouts and cells, to which ... "Mucopolysaccharidosis (MPS) IIIB". UPenn School of Veterinary Medicine. "New DNA-based Test for Inherited Diseases in ... Clinical signs appear between two and four years of age, and there are no known cures or treatments. The disease affects ... Of the 36 deceased dogs in the survey, the oldest dog was 17+1⁄2 years old. There is a known case where a Schipperke lived to ...
Mucopolysaccharidosis type I: MedlinePlus Genetics (National Library of Medicine) * Mucopolysaccharidosis type II: MedlinePlus ... 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 ... Mucopolysaccharidosis type III: MedlinePlus Genetics (National Library of Medicine) * ...
Mucopolysaccharidoses type IIIB is a rare genetic disorder caused by mutations in the gene that encodes for N-acetyl-alpha- ... Current treatment options are expensive, limited, and presently there are no approved cures for mucopolysaccharidoses type IIIB ... Mucopolysaccharidosis type IIIB: a current review and exploration of the AAV therapy lands ... Mucopolysaccharidosis type IIIB: a current review and exploration of the AAV therapy landscape. ...
AVROBIO Announces Neuronopathic Mucopolysaccharidosis Type II (nMPS-II) or Hunter Syndrome Clinical Trial Application (CTA) ... gene therapy in infants diagnosed with neuronopathic mucopolysaccharidosis type II (nMPS-II) or Hunter syndrome. This rare and ... AVROBIOs investigational gene therapy for nMPS-II or Hunter syndrome ... First in-human pediatric Phase 1/2 study to evaluate the safety and tolerability of first-in-class gene therapy targeting ...
Mucopolysaccharidosis II (MPS 11; Hunter syndrome) is a rare, progressive lysosomal storage disease caused by pathogenic ... They identified limitations of the Differential Ability Scales-II and Vineland Adaptive Behavior Scales-II instruments in this ... on the effects of intrathecal idursulfase-IT treatment in children with neuronopathic mucopolysaccharidosis type II. Poster ... on the effects of intrathecal idursulfase-IT treatment in children with neuronopathic mucopolysaccharidosis type II ...
Mucopolysaccharidosis Type II (MPS II). REGENXBIO Inc. is conducting a clinical trial to study RGX-121 as a gene therapy for ... mucopolysaccharidosis type II (MPS II or Hunter syndrome). This is a Phase I/II, first-in-human, multicenter, open-label, dose ... Two, one time doses of RGX-121 will be studied in approximately 6 children who have severe MPS II. Safety will be the primary ... Mucopolysaccharidosis Type I (MPS I). REGENXBIO Inc. is conducting a phase I, first-in-human, multicenter, open-label, dose ...
Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease). Journal: Current Pharmaceutical Design. Volume: 26 Issue: 4 ... Volume: 15 Issue: 2 Year: 2020 Page: 131-136. Author(s): Jeronimo Espinosa,Paulino A. Alvarez,Veronica Castro,Maria F. Caceres, ...
Pharmaceuticals Market report contains a holistic evaluation of the market including a comprehensive analysis of key segments, trends, drivers, competitive landscape, and factors that are playing a significant role in the market.
Mucopolysaccharidosis type I: MedlinePlus Genetics (National Library of Medicine) * Mucopolysaccharidosis type II: MedlinePlus ... Mucopolysaccharidosis type III: MedlinePlus Genetics (National Library of Medicine) * Multiple sulfatase deficiency: ... 2-hydroxyglutaric aciduria: MedlinePlus Genetics (National Library of Medicine) * 3-hydroxy-3-methylglutaryl-CoA lyase ...
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. Crawley AC, ... Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome. ... 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 ...
Explore the comprehensive breakdown of the top 10 symptoms of Mucopolysaccharidosis (MPS), a group of rare, genetic metabolic ... II_Hunter_Syndrome. 7. https://www.researchgate.net/publication/277961168_Hunter_Syndrome_Mucopolysaccharidosis_II_-_The_Signs_ ... People with mucopolysaccharidosis (MPS) often experience a peculiar anomaly: a striking change in their bone structure. This ... 1. https://www.ninds.nih.gov/health-information/disorders/mucopolysaccharidoses. 2. https://pubmed.ncbi.nlm.nih.gov/34730450/. ...
Mucopolysaccharidosis type II (MPS II) is a rare disease in which the body is missing or does not have enough of an enzyme ... MPS II; Hunter syndrome; Lysosomal storage disease - mucopolysaccharidosis type II; Iduronate 2-sulfatase deficiency; I2S ... The condition belongs to a group of diseases called mucopolysaccharidoses (MPSs). MPS II is also known as Hunter syndrome. ... rarediseases.org/rare-diseases/mucopolysaccharidosis-type-ii-2/. *NIH Genetic and Rare Diseases Information Center -- ...
Myelopathy in mucopolysaccharidosis type II (Hunters Syndrome). Annals of Neurology. 1980:7:382-385. ... Kaendler S, Bockenheimer S, Grafin Vitzthum, H. Galow, W. Cervical myelopathy in mucopolysaccharidosis type II (Hunters ... specifically mucopolysaccharidosis II. The buildup of glycosaminoglycans in the cells leads to symptoms early in life, ... In summary, Hunter syndrome is an uncommon mucopolysaccharidosis that frequently presents in early childhood with multisystem ...
p,,b,,/b,,br,,br,Iduronate 2 Sulfatase (Alpha L Iduronate Sulfate Sulfatase or Idursulfase or IDS or EC 3.1.6.13) - Iduronate 2 ... a Gene Therapy for Mucopolysaccharidosis Type II (MPSII) or Hunter Syndrome. Nov 02, 2021: GC Green Cross designated as a ... Feb 09, 2022: REGENXBIO presents additional positive interim data from phase I/II trial of RGX-121 for the treatment of MPS II ... Feb 09, 2022: REGENXBIO presents additional positive interim data from phase I/II trial of RGX-121 for the treatment of MPS II ...
  • Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body. (medlineplus.gov)
  • Garcia AR, Pan J, Lamsa JC, Muenzer J. The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome). (medscape.com)
  • Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a member of a group of inherited metabolic disorders collectively termed the mucopolysaccharidoses (MPSs). (medscape.com)
  • MPS II was first described by Charles Hunter in 1917. (medscape.com)
  • In 1917 at The Royal Society of Medicine Meeting in London, Charles Hunter, a Canadian Professor of Medicine, presented the medical histories of 2 brothers who were later diagnosed with Hunter syndrome. (medscape.com)
  • Neufeld et al, in the late 1960s, demonstrated that mucopolysaccharide accumulation in fibroblasts from patients with Hurler (MPS I) and Hunter (MPS II) syndromes could be corrected by co-culturing them with fibroblasts or tissue extracts from patients with a differently diagnosed MPSs. (medscape.com)
  • Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. (nih.gov)
  • Mucopolysaccharidosis II (MPS II), or Hunter syndrome, is a genetic disorder caused by a malfunctioning enzyme that cannot break down certain molecules. (drugfinder.ca)
  • ELAPRASE is a hydrolytic lysosomal glycosaminoglycan (GAG)-specific enzyme indicated for patients with Hunter syndrome (Mucopolysaccharidosis II, MPS II). (nih.gov)
  • This biochemical test is a quantitative measurement of iduronate-2-sulfatase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis II (MPS II), Hunter Syndrome. (ggc.org)
  • Demonstration of deficient iduronate-2-sulfatase enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis II (MPS II), Hunter Syndrome. (ggc.org)
  • Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. (ggc.org)
  • E ditor -Hunter disease or mucopolysaccharidosis type II (MPS II, MIM 309900) is an X linked recessive disease resulting from deficiency of the lysosomal enzyme iduronate-2-sulphatase (IDS, E.C.3.1.6.13). (bmj.com)
  • Idursulfase (brand name Elaprase), manufactured by Takeda, is a drug used to treat Hunter syndrome (also called MPS-II). (pharmakb.com)
  • Rozdzynska A, Tylki-Szymanska A, Jurecka A, Cieslik J. Growth pattern and growth prediction of body height in children with mucopolysaccharidosis type II. (medscape.com)
  • Therapeutic Candidate or Device Autologous blood stem cells edited to restore iduronidase expression Indication Severe Mucopolysaccharidosis Type 1 (MPS1/ Hurler's syndrome) Therapeutic Mechanism Autologous blood stem cells undergo genome editing to restore the production of the missing enzyme. (ca.gov)
  • 1 Hunter's syndrome is an X-linkedrecessive genetic disorder caused by adeficiency of the lysosomal enzymeiduronate-2-sulfatase (I2S). (pharmacytimes.com)
  • Thesedegradation products are called glycosaminoglycans(GAGs) or mucopolysaccharides.Hunter's syndrome, alsoreferred to as mucopolysaccharidosistype 2 (MPS II), is one of many lysosomalstorage disorders that affectmetabolism of mucopolysaccharides. (pharmacytimes.com)
  • A phase 2/3 randomized, doubleblind,placebo-controlled clinical studyevaluated the safety and efficacy ofrecombinant human I2S (idursulfase)for the treatment of Hunter's syndrome.The study included 96 patientsdiagnosed with Hunter's syndrome,ranging from 5 to 31 years of age.During 53 weeks, patients were administeredinfusions of Elaprase 0.5 mg/kgevery week (n = 32), Elaprase 0.5mg/kg every other week (n = 32), orplacebo (n = 32). (pharmacytimes.com)
  • 4. Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings. (nih.gov)
  • Although traditionally believed to be benign in nature, they have now been shown to co-exist with inborn errors of metabolism, most commonly GM1 gangliosidosis and mucopolysaccharidosis type I (Hurler's disease), followed by mucopolysaccharidosis type II (Hunter's syndrome), mucolipidosis, Niemann-Pick disease and mannosidosis. (wjgnet.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). (nih.gov)
  • While both types affect many different organs and tissues as described above, people with neuropathic MPS II also experience a decline in intellectual function and a more rapid disease progression. (medlineplus.gov)
  • Heart disease and airway obstruction are major causes of death in people with both types of MPS II. (medlineplus.gov)
  • This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. (uams.edu)
  • 2 In each disease, the primary enzyme deficiency results in the accumulation of partially degraded GAGs within the lysosomes of various cell types, leading to progressive multisystem involvement. (ajnr.org)
  • Intellectual impairment is a prominent feature in patients with MPS III and severe forms of MPS I, II, and VII, while normal cognition is retained in other types of the disease. (ajnr.org)
  • Another lysosomal storage disease often confused with the mucopolysaccharidoses is mucolipidosis. (nih.gov)
  • Babies with infantile-onset disease typically have enlarged hearts and die by age 2 years. (medscape.com)
  • Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease where affected individuals experience significant disease burden, disability and premature death. (bmj.com)
  • 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)
  • 11. Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease. (nih.gov)
  • Research of Storage Disease has been linked to Glycogen Storage Disease, Lysosomal Storage Diseases, Glycogen Storage Disease Type I, Glycogen Storage Disease Type Ii, Mucopolysaccharidoses. (novusbio.com)
  • Mucopolysaccharidosis is a genetic disease. (nih.gov)
  • At 11 years of age, she presented with hepatomegaly and growth retardation, but had no dysmorphic features, no multiplex dysostosis, no corneal clouding, no cardiovascular disease, no splenomegaly, and no mental retardation, in agreement with a mild form of MPS II. (bmj.com)
  • Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. (nih.gov)
  • Conditions that cause molecules to build up inside the lysosomes, including MPS II, are called lysosomal storage disorders. (medlineplus.gov)
  • The mucopolysaccharidoses are classified within a larger group of disorders called lysosomal storage diseases. (nih.gov)
  • Their correct assessment, the use of effective methods of complex treatment, targeted neurorehabilitation contribute to the reversibility of functional disorders, prevention, reduction of disability, improvement of quality of life indicators, prevention of the progression of cognitive, emotional, behavioral disorders initiated by SARS-CoV-2. (eco-vector.com)
  • Our group recently published an effective treatment using a codon -optimized triple mutant adeno-associated virus 8 vector that restores N-acetyl-alpha- glucosaminidase levels, auditory function, and lifespan in the murine model for mucopolysaccharidoses type IIIB to that seen in healthy mice . (bvsalud.org)
  • Individuals with mucolipidosis may share some of the clinical features associated with the mucopolysaccharidoses (certain facial features, bony structure abnormalities, and damage to the brain). (nih.gov)
  • Clarke LA. Idursulfase for the treatment of mucopolysaccharidosis II. (medscape.com)
  • Enzyme replacement therapy with intravenous infusions of idursulfase has emerged as a new treatment for mucopolysaccharidosis type II. (nih.gov)
  • To evaluate the effectiveness and safety of enzyme replacement therapy with idursulfase compared to other interventions, placebo or no intervention, for treating mucopolysaccharidosis type II. (nih.gov)
  • Two medical products - idursulfase and idursulfase beta - are available in Russia for life-time pathogenetic treatment of this nosology. (pharmacoeconom.com)
  • Both drugs have registration clinical research, however, unique real world evidence is available for idursulfase only and show the survival rate of the patients with MPS II collected during 15 years of maintaining the international patient register cov- ering more than 1,000 patients from 129 countries, including Russia. (pharmacoeconom.com)
  • hence, the term mucopolysaccharidoses was used to describe this family of diseases. (medscape.com)
  • 2 Centre for Molecular Diseases, Service for Genetic Medicine, University Hospital Lausanne, Switzerland. (nih.gov)
  • Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans. (nih.gov)
  • Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence. (medscape.com)
  • This condition, also known as mucopolysaccharidosis type II, occurs almost exclusively in males. (starlightstudy.com)
  • The example of mucopolysaccharidosis type II (MPS II) that was included in HCN in 2019 shows noticeable increase in pa- tients' access to therapy when transferring from regional budgets. (pharmacoeconom.com)
  • Most cases are inherited in an autosomal recessive manner, although one specific form (Type II) follows an X-linked pattern of inheritance. (nih.gov)
  • Report on two patients at the extremes of a wide clinical spectrum. (medscape.com)
  • 2 The clinical manifestations are diverse, including short stature and skeletal deformities, hepatosplenomegaly, hernias, and coarse facial features, whereas a different involvement of cardiovascular, respiratory, and CNS is observed in each type. (ajnr.org)
  • The mucopolysaccharidoses share many clinical features but have varying degrees of severity. (nih.gov)
  • Seven distinct clinical types and numerous subtypes of mucopolysaccharidoses have been identified. (nih.gov)
  • Clinical signs appear between two and four years of age, and there are no known cures or treatments. (wikipedia.org)
  • This led to the purification and subsequent identification of each defective lysosomal enzyme within the mucopolysaccharidoses syndromes. (medscape.com)
  • It is a purified form of the lysosomal enzyme iduronate-2-sulfatase and is produced by recombinant DNA technology in a human cell line. (pharmakb.com)
  • Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities that can be seen on x-rays. (medlineplus.gov)
  • Mucopolysaccharidosis II" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uams.edu)
  • Mucopolysaccharidoses type IIIB is a rare genetic disorder caused by mutations in the gene that encodes for N-acetyl-alpha- glucosaminidase . (bvsalud.org)
  • People with a mucopolysaccharidosis disorder either do not produce enough of one of the 11 enzymes required to break down these sugar chains into proteins and simpler molecules or they produce enzymes that do not work properly. (nih.gov)
  • 1 The IDS cDNA has been isolated 2 and the genomic region containing the IDS gene and pseudogene has been completely sequenced. (bmj.com)
  • Neural Regen Res;19(2): 355-359, 2024 Feb. (bvsalud.org)
  • Electroretinographic findings in the mucopolysaccharidoses. (medscape.com)
  • Although each mucopolysaccharidosis (MPS) differs clinically, most individuals experience a period of normal development followed by a decline in physical and/or mental function. (nih.gov)
  • Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. (curehunter.com)
  • The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. (nih.gov)
  • Aim: to conduct a comparative assessment of the efficacy and safety of ERT drugs in MPS II type patients and analyze drug provision organization for pa- tients with this nosology. (pharmacoeconom.com)
  • In severe cases, patients presentwith symptoms of Hunter's syndromearound age 2 to 6 years, as GAGs accumulatein the lysosomes of body cells. (pharmacytimes.com)
  • Together, these data shed light on the current understanding of the pathogenesis of SARS-CoV-2 and lay the groundwork for better diagnosis and treatment of patients with COVID-19. (eco-vector.com)
  • 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. (medscape.com)
  • Signs and symptoms typically begin in children ages 2 to 4 years. (starlightstudy.com)
  • 2 Symptoms may include enlarged skulland forehead, frequent infections, 2 hearing loss, obstructive airways diseasewith sleep apnea, 1 cardiac valveabnormalities, 3 organ enlargement, andmental retardation. (pharmacytimes.com)
  • When Do Symptoms of Mucopolysaccharidosis Begin? (nih.gov)
  • Objective Early diagnosis and treatment initiation are important factors for successful treatment of mucopolysaccharidosis type I (MPS I). The purpose of this observational study was to assess whether age at diagnosis and time to first treatment for individuals with MPS I have improved over the last 15 years. (bmj.com)
  • An improved method has been developed for the detection of heterozygotes for feline and human mucopolysaccharidosis VI. (curehunter.com)
  • A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). (nih.gov)
  • Here, we review the current state of the field in relation to the capsid landscape, adeno-associated virus gene therapy and its successes and challenges in the clinic, and how novel adeno-associated virus capsid designs have evolved research in the mucopolysaccharidoses type IIIB field. (bvsalud.org)
  • MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males. (medlineplus.gov)
  • Current treatment options are expensive, limited, and presently there are no approved cures for mucopolysaccharidoses type IIIB. (bvsalud.org)
  • Since SARS-CoV-2 first appeared in humans, the scientific community has tried to gather as much information as possible in order to find effective strategies for the containment and treatment this pandemic coronavirus. (eco-vector.com)
  • The main SARS-CoV-2 receptor, ACE2, is expressed at different levels in many tissues throughout the human body, but its expression levels do not always correspond to the detection of SARS-CoV-2, indicating a complex interaction between the virus and humans. (eco-vector.com)