A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.
The beta subunit of hexosaminidase A and hexosamininidase B. Mutations in the gene that encodes this protein are linked to SANDHOFF DISEASE and can result in loss of both hexosaminidase A activity and hexosaminidase B activity.
A mammalian beta-hexosaminidase isoform that is comprized of hexosaminidase beta subunits. Deficiency of hexosaminidase B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.
A glycosphingolipid that accumulates due to a deficiency of hexosaminidase A or B (BETA-N-ACETYLHEXOSAMINIDASES), or GM2 activator protein, resulting in GANGLIOSIDOSES, heredity metabolic disorders that include TAY-SACHS DISEASE and SANDHOFF DISEASE.
An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.
An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease.
An essential cofactor for the degradation of G(M2)GANGLIOSIDE by lysosomal BETA-N-ACETYLHEXOSAMINIDASES. Genetic mutations resulting in loss of G(M2) activator protein are one of the causes of TAY-SACHS DISEASE, AB VARIANT.

Matrix-assisted laser desorption ionization time-of-flight mass spectrometric analysis of glycosphingolipids including gangliosides. (1/82)

Long chain base compositions of gangliosides containing mainly stearic acid could be determined without any chemical modification by matrix-assisted laser desorption ionization time-of-flight mass spectrometry with delayed ion extraction (DE MALDI-TOF MS). The analytical results for the long chain base compositions of various samples of GM1 from the brain tissues of patients with different diseases at different ages confirmed that the proportion of d20:1 (icosasphingosine) and d20 (icosa-sphinganine) of the total sphingosine bases increased quickly until adolescent or adult age and then remained constant slightly exceeding 50%; this value was evidently higher than the proportion of d20:1 and d20 of GM1 in various adult mammalian brains. A long chain base composition of GM1 from the brain tissue of a patient with infantile type of GM1-gangliosidosis at 4y2m was abnormal and so was in two sibling patients with Spielmeyer-Vogt type of juvenile amaurotic idiocy at 19y and 21y in spite of that in the latter there was no accumulation of GM1 in the brain tissue. On the other hand, a patient with adult type of GM1 gangliosidosis at 66y showed a local accumulation of GM1 in the putamen and caudate nucleus, but its long chain base composition was found to be normal. It was of interest that the white matter of Eker rat with hereditary renal carcinoma contained a large amount of plasmalocerebroside as compared with the amount of cerebroside and sphingomyelin. The individual molecular species of plasmalocerebroside were identified by DE MALDI-TOF MS.  (+info)

Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts. (2/82)

The residual hexosaminidase isoenzymes in juvenile Sandhoff and infantile Sandhoff disease fibroblasts, have been determined by starch gel electrophoresis and column isoelectric focusing. Hex A and hex S are the major residual isozymes in fibroblasts from the juvenile patient, while hex B is barely detectable. Only hex S could be detected in fibroblasts from infantile Sandhoff patients. These results suggest that the defects in juvenile and infantile Sandhoff disease may be different allelic modifications of the beta subunit common to hex A and hex B.  (+info)

Radial and linear thin-layer chromatographic prodedures compared for screening urines to detect oligosaccharidoses. (3/82)

We describe a circular (radial) thin-layer chromatographic procedure for separating urinary oligosaccharides. Results were better than those obtained by a single linear development. Bands and specific patterns were finely resolved for various known oligosaccharidoses. The procedure provides a simple means of screening for these disorders.  (+info)

Crystallographic evidence for substrate-assisted catalysis in a bacterial beta-hexosaminidase. (4/82)

beta-Hexosaminidase, a family 20 glycosyl hydrolase, catalyzes the removal of beta-1,4-linked N-acetylhexosamine residues from oligosaccharides and their conjugates. Heritable deficiency of this enzyme results in various forms of GalNAc-beta(1,4)-[N-acetylneuraminic acid (2,3)]-Gal-beta(1,4)-Glc-ceramide gangliosidosis, including Tay-Sachs disease. We have determined the x-ray crystal structure of a beta-hexosaminidase from Streptomyces plicatus to 2.2 A resolution (Protein Data Bank code ). beta-Hexosaminidases are believed to use a substrate-assisted catalytic mechanism that generates a cyclic oxazolinium ion intermediate. We have solved and refined a complex between the cyclic intermediate analogue N-acetylglucosamine-thiazoline and beta-hexosaminidase from S. plicatus to 2.1 A resolution (Protein Data Bank code ). Difference Fourier analysis revealed the pyranose ring of N-acetylglucosamine-thiazoline bound in the enzyme active site with a conformation close to that of a (4)C(1) chair. A tryptophan-lined hydrophobic pocket envelopes the thiazoline ring, protecting it from solvolysis at the iminium ion carbon. Within this pocket, Tyr(393) and Asp(313) appear important for positioning the 2-acetamido group of the substrate for nucleophilic attack at the anomeric center and for dispersing the positive charge distributed into the oxazolinium ring upon cyclization. This complex provides decisive structural evidence for substrate-assisted catalysis and the formation of a covalent, cyclic intermediate in family 20 beta-hexosaminidases.  (+info)

Clathrin-dependent and -independent internalization of plasma membrane sphingolipids initiates two Golgi targeting pathways. (5/82)

Sphingolipids (SLs) are plasma membrane constituents in eukaryotic cells which play important roles in a wide variety of cellular functions. However, little is known about the mechanisms of their internalization from the plasma membrane or subsequent intracellular targeting. We have begun to study these issues in human skin fibroblasts using fluorescent SL analogues. Using selective endocytic inhibitors and dominant negative constructs of dynamin and epidermal growth factor receptor pathway substrate clone 15, we found that analogues of lactosylceramide and globoside were internalized almost exclusively by a clathrin-independent ("caveolar-like") mechanism, whereas an analogue of sphingomyelin was taken up approximately equally by clathrin-dependent and -independent pathways. We also showed that the Golgi targeting of SL analogues internalized via the caveolar-like pathway was selectively perturbed by elevated intracellular cholesterol, demonstrating the existence of two discrete Golgi targeting pathways. Studies using SL-binding toxins internalized via clathrin-dependent or -independent mechanisms confirmed that endogenous SLs follow the same two pathways. These findings (a) provide a direct demonstration of differential SLs sorting into early endosomes in living cells, (b) provide a "vital marker" for endosomes derived from caveolar-like endocytosis, and (c) identify two independent pathways for lipid transport from the plasma membrane to the Golgi apparatus in human skin fibroblasts.  (+info)

The gangliosidoses: comparative features and research applications. (6/82)

Ganglioside storage diseases are inherited defects of lysosomal hydrolases that result in intralysosomal accumulation of gangliosides and other complex metabolites. Gangliosidoses occur in man, cats, cattle, dogs and swine. In all species, these diseases are characterized clinically by relentlessly progressive neurological deterioration. Lysosomal hypertrophy with characteristic ultrastructural inclusions occur in neurons, endothelial and other cells. Definitive diagnosis requires biochemical identification of the storage product and enzyme deficiency. Gangliosidoses in animals are important models of human lysosomal diseases and may be a significant complication in the maintenance of certain purebred stocks of domestic animals.  (+info)

Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides. (7/82)

A clinical description of an apparently classical case of type 1 GM1 gangliosidosis is presented. The patient was the first-born child of first cousins. She was diagnosed at 6 weeks and died at 6 months. beta-Galactosidase activity was deficient in cultured fibroblasts using [3H]GM1 ganglioside and [3H]ceramide-lactose as substrates. Genetic complementation studies performed after cell fusion between cultured fibroblasts from the patient and from two other type 1, one type 2, and one juvenile GM1 gangliosidosis strain were positive with all strains. Subsequent studies revealed an increased excretion of a sialic acid-containing hexasaccharide in the patient's cells. Parents' fibroblasts contained normal levels of beta-galactosidase. The case emphasizes the variability of the clinical expression in sialidosis and the importance of demonstrating a primary gene defect in establishing a diagnosis of an inborn error or metabolism.  (+info)

Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. (8/82)

Mouse models of the GM2 gangliosidoses [Tay-Sachs, late onset Tay-Sachs (LOTS), Sandhoff] and GM1 gangliosidosis have been studied to determine whether there is a common neuro-inflammatory component to these disorders. During the disease course, we have: (i) examined the expression of a number of inflammatory markers in the CNS, including MHC class II, CD68, CD11b (CR3), 7/4, F4/80, nitrotyrosine, CD4 and CD8; (ii) profiled cytokine production [tumour necrosis factor alpha (TNF alpha), transforming growth factor (TGF beta 1) and interleukin 1 beta (IL1 beta)]; and (iii) studied blood-brain barrier (BBB) integrity. The kinetics of apoptosis and the expression of Fas and TNF-R1 were also assessed. In all symptomatic mouse models, a progressive increase in local microglial activation/expansion and infiltration of inflammatory cells was noted. Altered BBB permeability was evident in Sandhoff and GM1 mice, but absent in LOTS mice. Progressive CNS inflammation coincided with the onset of clinical signs in these mouse models. Substrate reduction therapy in the Sandhoff mouse model slowed the rate of accumulation of glycosphingolipids in the CNS, thus delaying the onset of the inflammatory process and disease pathogenesis. These data suggest that inflammation may play an important role in the pathogenesis of the gangliosidoses.  (+info)

GM2 gangliosidoses are a group of inherited metabolic disorders caused by the accumulation of harmful amounts of GM2 gangliosides in the body's cells, particularly in the nerve cells of the brain. There are three main types of GM2 gangliosidoses: Tay-Sachs disease, Sandhoff disease, and AB variant of GM2 gangliosidosis. These conditions are characterized by progressive neurological degeneration, which can lead to severe physical and mental disabilities, and ultimately death in childhood or early adulthood.

The underlying cause of GM2 gangliosides is a deficiency in the enzyme hexosaminidase A (Tay-Sachs and AB variant) or both hexosaminidase A and B (Sandhoff disease), which are responsible for breaking down GM2 gangliosides. Without sufficient enzyme activity, GM2 gangliosides accumulate in the lysosomes of cells, leading to cell dysfunction and death.

Symptoms of GM2 gangliosidoses can vary depending on the specific type and severity of the disorder, but often include developmental delay, muscle weakness, loss of motor skills, seizures, blindness, and dementia. There is currently no cure for GM2 gangliosidoses, and treatment is focused on managing symptoms and improving quality of life.

Gangliosidoses are a group of inherited metabolic disorders caused by the accumulation of certain complex lipids called gangliosides in the brain and nervous system. This buildup is due to a deficiency of specific enzymes needed to break down these substances. The three main types of gangliosidoses are:

1. Type 1 - Infantile Neurovisceral or Tay-Sachs Disease: Characterized by the absence of the enzyme hexosaminidase A, leading to severe neurological symptoms such as muscle weakness, blindness, and developmental delay in early infancy, with rapid progression and death usually occurring before age 4.
2. Type 2 - Juvenile or Subacute GM1 Gangliosidosis: Caused by a deficiency of the enzyme beta-galactosidase, resulting in progressive neurological symptoms such as motor and cognitive decline, beginning between ages 6 months and 2 years. Affected individuals may survive into adolescence or early adulthood.
3. Type 3 - Adult or Chronic GM1 Gangliosidosis: Characterized by a deficiency of beta-galactosidase, leading to milder neurological symptoms that appear in late childhood, adolescence, or even adulthood. The progression is slower compared to the other types, and life expectancy varies widely.

Gangliosidoses are autosomal recessive disorders, meaning an individual must inherit two copies of the defective gene (one from each parent) to develop the condition.

Sandhoff disease is a rare inherited disorder that affects the nervous system. It's a type of GM2 gangliosidosis, which is a group of conditions characterized by the body's inability to break down certain fats (lipids) called gangliosides.

In Sandhoff disease, deficiencies in the enzymes hexosaminidase A and B lead to an accumulation of GM2 ganglioside in various cells, particularly in nerve cells of the brain. This accumulation results in progressive damage to the nervous system.

The symptoms of Sandhoff disease typically appear between 6 months and 2 years of age and can include developmental delay, seizures, an exaggerated startle response, muscle weakness, loss of motor skills, and vision and hearing loss. The condition is often fatal by around age 3. It's caused by mutations in the HEXB gene, and it's inherited in an autosomal recessive manner, meaning an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease.

Beta-Hexosaminidase beta chain is a subunit of the beta-Hexosaminidase enzyme, which is responsible for breaking down complex lipids called gangliosides in the body. Specifically, it helps to break down a type of ganglioside called GM2 ganglioside into simpler components. Defects in this enzyme can lead to a group of genetic disorders known as the GM2 gangliosidoses, which include Tay-Sachs disease and Sandhoff disease. These conditions are characterized by the accumulation of GM2 gangliosides in various tissues, particularly in the nervous system, leading to progressive neurological deterioration.

Hexosaminidase B is a type of enzyme that is involved in the breakdown of complex lipids called gangliosides in the body. These enzymes are found in lysosomes, which are structures inside cells that break down and recycle various materials.

Hexosaminidase B specifically helps to break down a particular type of ganglioside called GM2 ganglioside, which is abundant in the nervous system. Mutations in the gene that provides instructions for making this enzyme can lead to a condition called Tay-Sachs disease, which is characterized by the accumulation of GM2 gangliosides in the nerve cells, leading to progressive neurological deterioration.

In summary, Hexosaminidase B is an essential enzyme for breaking down certain types of lipids in the body, and its deficiency can lead to serious health consequences.

GM1 gangliosidosis is a rare inherited lysosomal storage disorder caused by the deficiency of an enzyme called β-galactosidase. This enzyme is responsible for breaking down certain complex fats (gangliosides) in the body. When this enzyme is lacking or not working properly, these gangliosides accumulate in various cells, particularly in nerve cells of the brain, leading to progressive neurological deterioration.

The condition can present at different ages and with varying severity, depending on the amount of functional β-galactosidase enzyme activity. The three main types of GM1 gangliosidosis are:

1. Early infantile (type I): This is the most severe form, with symptoms appearing within the first few months of life. Infants may appear normal at birth but then develop rapidly progressing neurological problems such as developmental delay, muscle weakness, seizures, and cherry-red spots in the eyes. Life expectancy is typically less than 2 years.

2. Late infantile/juvenile (type II): Symptoms begin between ages 1 and 3 years or later in childhood. Affected individuals may have developmental delay, motor difficulties, muscle weakness, and cognitive decline. Some individuals with this form may also develop corneal clouding and bone abnormalities.

3. Adult/chronic (type III): This is the least severe form of GM1 gangliosidosis, with symptoms appearing in late childhood, adolescence, or adulthood. Symptoms can include neurological problems such as muscle weakness, tremors, and difficulties with coordination and speech.

Currently, there is no cure for GM1 gangliosidosis, and treatment is primarily supportive to manage symptoms and improve quality of life.

Hexosaminidase A is an enzyme that is responsible for breaking down certain complex molecules in the body, specifically gangliosides. This enzyme is composed of two subunits, alpha and beta, which are encoded by the genes HEXA and HEXB, respectively.

Deficiency or mutation in the HEXA gene can lead to a genetic disorder called Tay-Sachs disease, which is characterized by an accumulation of gangliosides in the nerve cells, leading to progressive neurological degeneration. The function of hexosaminidase A is to break down these gangliosides into simpler molecules that can be eliminated from the body. Without sufficient levels of this enzyme, the gangliosides build up and cause damage to the nervous system.

Tay-Sachs Disease is a rare, inherited autosomal recessive disorder that affects the nervous system's functioning. It results from the deficiency of an enzyme called hexosaminidase A (Hex-A), which is necessary for breaking down gangliosides, a type of fatty substance found in nerve cells. When Hex-A is absent or insufficient, gangliosides accumulate abnormally in the nerve cells, leading to their progressive destruction and severe neurological deterioration.

The classic infantile form of Tay-Sachs Disease manifests within the first six months of life with symptoms such as loss of motor skills, seizures, paralysis, dementia, blindness, and eventually death, usually by age four. Late-onset forms of the disease also exist, which may present in childhood or adulthood with milder symptoms.

Tay-Sachs Disease is more prevalent among individuals of Ashkenazi Jewish, French Canadian, and Cajun descent. Genetic counseling and prenatal testing are recommended for couples at risk of passing on the disease.

Beta-N-Acetylhexosaminidases are a group of enzymes that play a role in the breakdown and recycling of complex carbohydrates in the body. Specifically, they help to break down gangliosides, which are a type of molecule found in cell membranes.

There are several different isoforms of beta-N-Acetylhexosaminidases, including A, B, and S. These isoforms are formed by different combinations of subunits, which can affect their activity and substrate specificity.

Mutations in the genes that encode for these enzymes can lead to a variety of genetic disorders, including Tay-Sachs disease and Sandhoff disease. These conditions are characterized by an accumulation of gangliosides in the brain, which can cause progressive neurological deterioration and death.

Treatment for these conditions typically involves managing symptoms and providing supportive care, as there is currently no cure. Enzyme replacement therapy has been explored as a potential treatment option, but its effectiveness varies depending on the specific disorder and the age of the patient.

The GM2 gangliosidoses are a group of three related genetic disorders that result from a deficiency of the enzyme beta- ... GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve ... "Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2) (BioGM1/BioGM2)". ClinicalTrials.gov Archive. NIH US National Library ... Except in some rare, late-onset forms, the GM2 gangliosidoses are fatal. All three disorders are rare in the general population ...
The GM1 gangliosidoses, usually shortened to GM1, are gangliosidoses caused by mutation in the GLB1 gene resulting in a ... GM1 Gangliosidoses disorders are caused by mutations in the GLB1 gene, which codes for lysosomal hydrolase, acid beta- ... July 2011). "GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings". Biochimica et ... Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, Whitley CB (June 2017). "Infantile gangliosidoses: Mapping a ...
GM1 gangliosidoses - GM1 GM2 gangliosidoses - GM2 Sphingolipidoses#Overview Prayson, Richard A. (2012). Neuropathology. ... Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids known as gangliosides. ...
... refers to several similar genetic disorders: Tay-Sachs disease Sandhoff disease GM2-gangliosidosis, AB ...
GM2 gangliosidoses RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: GM2 gangliosidosis, AB variant". www.orpha.net. Retrieved 9 ... GM2-gangliosidosis, AB variant is extremely rare. In contrast with both Tay-Sachs disease and Sandhoff disease, in which many ... GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve ... It was eventually determined that GM2 gangliosidosis could be caused by mutations on three distinct genes, one of which was an ...
By the end of the 1970s, researchers had identified three variant forms of GM2 gangliosidosis, including Sandhoff disease and ... O'Brien JS (1983). "The Gangliosidoses". In Stanbury JB; et al. (eds.). The Metabolic Basis of Inherited Disease. New York: ...
GM2 Gangliosidoses - Introduction And Epidemiology Archived 2012-04-20 at the Wayback Machine at Medscape. Author: David H ... Tay-Sachs disease is a type of GM2 gangliosidosis and sphingolipidosis. The treatment of Tay-Sachs disease is supportive in ... Specola N, Vanier MT, Goutières F, Mikol J, Aicardi J (1 January 1990). "The juvenile and chronic forms of GM2 gangliosidosis: ... O'Brien, John S (1983). "The Gangliosidoses". In Stanbury, J B; et al. (eds.). The Metabolic Basis of Inherited Disease. New ...
GM1-gangliosidosis is a lysosomal storage disease that can be caused by a deficiency of β-galactosidase (GLB1). Some cases of ... Goldman JE, Katz D, Rapin I, Purpura DP, Suzuki K (May 1981). "Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical ... Oshima A, Yoshida K, Ishizaki A, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y (May 1992). "GM1-gangliosidosis: tandem ... Shows TB, Scrafford-Wolff LR, Brown JA, Meisler MH (Mar 1979). "GM1-gangliosidosis: chromosome 3 assignment of the beta- ...
... and the failure to remove GM1 results in GM1 gangliosidosis. GM1 gangliosidosis are inherited disorders that progressively ... "GM1 gangliosidosis". Genetic Home Reference. Retrieved 26 October 2013. Bansal AS, Abdul-Karim B, Malik RA, et al. (1994). "IgM ...
Mutations in this gene, inherited in an autosomal recessive pattern, result in GM2-gangliosidosis, AB variant, a rare GM2 ... Gangliosidosis Sandhoff disease Tay-Sachs disease Hexosaminidase GM1 GRCh38: Ensembl release 89: ENSG00000196743 - Ensembl, May ... 1996). "Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant". Am. J. Hum. Genet ... Screening of normal human tissues and body fluids, of tissues of GM2 gangliosidosis, and for its subcellular localization". ...
Gort L, de Olano N, Macías-Vidal J, Coll MA (September 2012). "GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes ... Inability of HEXB will lead toβ-hexosaminidase defect and result in a group of recessive disorders called GM2 gangliosidoses, ... Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). The HEXB gene lies on the chromosome ... Mahuran DJ (February 1991). "The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis". Biochimica et ...
dos Santos MR, Tanaka A, sá Miranda MC, Ribeiro MG, Maia M, Suzuki K (October 1991). "GM2-gangliosidosis B1 variant: analysis ... Mahuran DJ (February 1991). "The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis". Biochimica et ... Mahuran DJ (October 1999). "Biochemical consequences of mutations causing the GM2 gangliosidoses". Biochimica et Biophysica ... splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay- ...
PIGM GM1-gangliosidosis, type I; 230500; GLB1 GM1-gangliosidosis, type II; 230600; GLB1 GM1-gangliosidosis, type III; 230650; ... GLB1 GM2-gangliosidosis, AB variant; 272750; GM2A GM2-gangliosidosis, several forms; 272800; HEXA Gnathodiaphyseal dysplasia; ...
Gangliosides: Gangliosidosis GM1 gangliosidoses GM2 gangliosidoses Tay-Sachs disease Sandhoff disease GM2-gangliosidosis, AB ... Retrieved June 2012 GM2 Gangliosidoses - Introduction And Epidemiology at Medscape. Author: David H Tegay. Updated: Mar 9, 2012 ...
"Pathology of GM2 Gangliosidosis in Jacob Sheep". Veterinary Pathology. 48 (3): 807-13. doi:10.1177/0300985810388522. ISSN 0300- ...
GM1 gangliosidoses, characterized by abnormal lipid storage, leads to vacuolization in eccrine sweat gland cells. Hunter ... Drut, Ricardo (1978). "Eccrine Sweat Gland Involvement in GM1 Gangliosidosis". Journal of Cutaneous Pathology. 5 (1): 35-36. ...
It is associated with GM2 gangliosidoses such as Tay-Sachs disease. Ganglioside GM2 activator protein Sphingolipidoses ...
Late-onset GM2 gangliosidosis may also present as burning dysesthesia. Chemotherapy-induced peripheral neuropathy is a ... Chow, G. C. S., Clarke, J. T. R., & Banwell, B. L. (2001). Late-onset GM2 gangliosidosis presenting as burning dysesthesias. ...
1991). "Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases". ... 1994). "Normal serum beta-galactosidase in juvenile GM1 gangliosidosis". Pediatr. Neurol. 10 (4): 317-9. doi:10.1016/0887-8994( ... "Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis". Am. J. Hum. Genet. 54 (6 ...
In December 2018, Axovant added two gene therapy programs[which?] to treat GM1 gangliosidosis and Tay-Sachs and Sandhoff ...
All breeding stock should be tested for GM-1 storage disease or GM1 gangliosidoses, which is a fatal nerve disease that ... one of a family of conditions called GM1 gangliosidoses, is a recessive, genetic disorder that is inevitably fatal. It is ... "GM1 gangliosidosis in Portuguese water dogs: pathologic and biochemical findings". Veterinary Pathology. American College of ...
... the AB-variant of GM2-Gangliosidosis and the B1-variant of GM2-gangliosidosis. The molecular defect in Sandhoff disease was ... GM2-gangliosidosis, AB variant Globoside Sandhoff K, Andreae U, Jatzkewitz H (March 1968). "Deficient hexosaminidase activity ... Kytzia HJ, Hinrichs U, Maire I, Suzuki K, Sandhoff K (1983). "Variant of GM2-gangliosidosis with hexosaminidase A having a ... Conzelmann E, Sandhoff K (August 1978). "AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for ...
... and neurophysiological abnormalities in retinas of Sandhoff and GM1 gangliosidosis mice". Journal of Neurochemistry. 101 (5): ...
... some of the sphingolipidoses may be classified into either GM1 gangliosidoses or GM2 gangliosidoses. Tay-Sachs disease belongs ...
GM1-gangliosidosis and Fabry diseases" (PDF). Chemical Communications. 52 (32): 5497-515. doi:10.1039/C6CC01564F. PMID 27043200 ...
Metabolic Storage Diseases:, Tay-Sachs disease Farber disease GM1 and GM2 gangliosidoses Metachromatic leukodystrophy Niemann- ...
... is now classified as a gangliosidosis. The other two types are closely related. Mucolipidosis types II and III (ML II and ML ...
GM2 Gangliosidosis, and Hypokalaemia. Breeders are currently taking steps to ensure that these genes are carefully eliminated ...
... in case of gangliosides it affects the gangliosidoses (e.g. Tay-Sachs disease) . Sphingomyelin Charles Chalfant; Maurizio Del ...
IntraBio is also conducting parallel clinical trials with N-Acetyl-L-Leucine for the treatment of GM2 Gangliosidosis (Tay-Sachs ... the GM2 gangliosidoses, and ataxia telangiectasia". Trials. 22 (1): 84. doi:10.1186/s13063-020-05009-3. PMC 7821839. PMID ...
The GM2 gangliosidoses are a group of three related genetic disorders that result from a deficiency of the enzyme beta- ... GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve ... "Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2) (BioGM1/BioGM2)". ClinicalTrials.gov Archive. NIH US National Library ... Except in some rare, late-onset forms, the GM2 gangliosidoses are fatal. All three disorders are rare in the general population ...
GM1 gangliosidosis is an inherited disorder that destroys neurons in the brain and spinal cord. Explore symptoms, inheritance, ... People with GM1 gangliosidosis type I can lose their vision due to clouding of the clear outer covering of the eye (the cornea ... GM1 gangliosidosis type III is the adult or chronic form of the condition, and this is the mildest form. The age at which ... GM1 gangliosidosis type II occurs in one of two forms: the late infantile or the juvenile forms. Children with type II develop ...
... causes GM1 gangliosidosis and Morquio disease type B (ie, ... ... GM1 gangliosidosis is an autosomal recessive lysosomal storage ... encoded search term (GM1 Gangliosidosis) and GM1 Gangliosidosis What to Read Next on Medscape ... GM1 Gangliosidosis. Updated: Apr 24, 2018 * Author: Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP, FANA; Chief Editor: ... 1] Three clinical subtypes of GM1 gangliosidosis are recognized, classified by age of onset, as follows:. * Infantile (type 1 ...
GM1-gangliosidosis is a glycosphingolipid lysosomal storage disease involving accumulation of GM1 and its asialo form (GA1) ... Myelin abnormalities in the optic and sciatic nerves in mice with GM1-gangliosidosis ASN Neuro. 2015 Feb 18;7(1): ... GM1-gangliosidosis is a glycosphingolipid lysosomal storage disease involving accumulation of GM1 and its asialo form (GA1) ...
Recursion falls after delay for GM2 gangliosidosis trial. Mar. 03, 2022 3:48 PM ETRecursion Pharmaceuticals, Inc. (RXRX)By: ...
In feline GM1 gangliosidosis, a pathogenic mutation (c. 1448G , C) has been identified in the feline GLB1 gene and it has been ... GM1 gangliosidosis is a fatal, progressive, neurodegenerative lysosomal storage disease caused by mutations in the β- ... Recently, two different families of feline GM1 gangliosidosis caused by each different novel mutation were found in Japanese ... In this study, we successfully identified the two novel pathogenic mutations in feline GM1 gangliosidosis. The disease caused ...
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... or GM1 gangliosidosis, is a genetic disorder that results in the progressive destruction of neurons in the brain and spina ... Generalized gangliosidoses, or GM1 gangliosidosis, is a genetic disorder that results in the progressive destruction of neurons ... Two and a half years ago, we were faced with her diagnosis of GM1 gangliosidosis, a rare degenerative neurological disease. ... GM1 gangliosidoses causes skeletal abnormalities, seizures, loss of vision and profound intellectual disability. It also leads ...
GM1 gangliosidosis is due to an inherited deficiency of the enzyme beta-galactosidase, whereas GM2 gangliosidosis is caused by ... There are two types of gangliosidoses, GM1 and GM2 gangliosidosis. Affected kittens have head tremors at the beginning followed ... The gangliosidoses are progressive, fatal neurological diseases of cats, humans and other animals where gangliosides accumulate ... The gangliosidoses are progressive, fatal neurological diseases of cats where gangliosides... altro ...
... causes GM1 gangliosidosis and Morquio disease type B (ie, ... ... GM1 gangliosidosis is an autosomal recessive lysosomal storage ... encoded search term (GM1 Gangliosidosis) and GM1 Gangliosidosis What to Read Next on Medscape ... 1] Three clinical subtypes of GM1 gangliosidosis are recognized, classified by age of onset, as follows: * Infantile (type 1): ... GM1 gangliosidosis is found in all races, although specific alleles can be identified in certain ethnic groups. A high ...
GM1 gangliosidosis is a progressive, degenerative brain and central nervous system disease affecting motor and cognitive ... GM1 Gangliosidosis Research. Title: Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) ... Types of GM1 Gangliosidosis. GM1 gangliosidosis is usually classified as one of three different types depending on the age of ... GM1 gangliosidosis is an inherited condition.. GM1 gangliosidosis is similar to Tay-Sachs disease and Sandhoff disease, but the ...
Denis R, Waeyenberg JL, Vermeulen M, Gorus F, Liebaers I, Vamos E. Hyperphosphatasemia in GM1 gangliosidosis. J Pediatr. 1992; ... Hyperphosphatasemia in GM1 gangliosidosis.. R. Denis, J.l. Waeyenberg, M. Vermeulen, Frans Gorus, Ingeborg Liebaers, E. Vamos ... Hyperphosphatasemia in GM1 gangliosidosis. / Denis, R.; Waeyenberg, J.l.; Vermeulen, M.; Gorus, Frans; Liebaers, Ingeborg; ... Denis, R, Waeyenberg, JL, Vermeulen, M, Gorus, F, Liebaers, I & Vamos, E 1992, Hyperphosphatasemia in GM1 gangliosidosis., J ...
Gangliosidosis GM2 is an inherited error of lipid metabolism, also known as a lysosomal storage disease. EVG has the best DNA ... Gangliosidosis GM2 is a hereditary disease which can be tested with a DNA test. ... Gangliosidosis 2 (GM2). Gangliosidosis GM2 is a hereditary disease that can be tested with a DNA testGangliosidosis is an ... Toy Poodle and Shiba Inu dogs affected with GM2- gangliosidosis develop nervous system clinical signs including vision loss, ...
We found that key regulators of iron homeostasis, hepcidin and IL-6, were increased in gangliosidoses mice. In the brain, the ... Here we show altered iron homeostasis in mouse models of both GM1 and GM2 gangliosidoses, which are characterized by ... Neurodegeneration is a prominent feature of the gangliosidoses, a group of lysosomal storage diseases. ... Critical role of iron in the pathogenesis of the murine gangliosidoses. Jeyakumar M., Williams I., Smith D., Cox TM., Platt FM. ...
Comprehensive differential diagnostic panel for GM1-Gangliosodosis type I-II comprising 25 curated genes according to the clinical signs ...
Tag: GM1 Gangliosidosis Treatment Market trends. Article Wood - Bloggers Unite India Articles.. Global GM1 Gangliosidosis ... FutureWise Research has released a research report that analyses GM1 Gangliosidosis … Continue reading. ... Global GM1 Gangliosidosis Treatment market is poised to value over USD 447.8 million by 2028 end at a CAGR of over 36% during ...
... May 18, 2022. Alicia Bigica ... Type IIa (Late Onset) Infantile GM1 Gangliosidosis (GM1). Presented at: 2022 American Society of Gene and Cell Therapy Annual ... demonstrate good safety and impressive improvements in clinically meaningful end points in patients with GM1 gangliosidosis ...
They all presented with the acute form of GM2 gangliosidosis, which is clinically undistinguishable from the classical acute ... is the rarest form of GM2-gangliosidoses. It is due to deficiency of the GM2 activator protein. Only six cases, confirmed by ... GM2-Gangliosidosis variant AB, also known as Tay-Sachs disease AB Variant, ... GM2-Gangliosidosis variant AB, also known as Tay-Sachs disease AB Variant, is the rarest form of GM2-gangliosidoses. It is due ...
We found that key regulators of iron homeostasis, hepcidin and IL-6, were increased in gangliosidoses mice. In the brain, the ... Here we show altered iron homeostasis in mouse models of both GM1 and GM2 gangliosidoses, which are characterized by ... Neurodegeneration is a prominent feature of the gangliosidoses, a group of lysosomal storage diseases. ... Critical role of iron in the pathogenesis of the murine gangliosidoses. Jeyakumar M., Williams I., Smith D., Cox TM., Platt FM. ...
Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis. Boland S, Swarup S, Ambaw YA, Malia PC, Richards ...
The gangliosidoses. The gangliosidoses are comprised of two distinct groups of genetic diseases. Both are autosomal recessive ... Late infantile GM1 gangliosidosis typically begins between ages 1 and 3 years. Neurological symptoms include: *Ataxia ... GM1 gangliosidosis develops between ages 3 and 30. Symptoms include: *Decreased muscle mass (muscle atrophy), ... GM2 gangliosidoses also cause the body to store excess acidic fatty materials in tissues and cells, most notably in nerve cells ...
Canine GM1 gangliosidosis: An Ultrastructural and Biochemical Study. Moses Rodriguez, John S. OBrien, Robert S. Garrett, Henry ... Dive into the research topics of Canine GM1 gangliosidosis: An Ultrastructural and Biochemical Study. Together they form a ...
Gangliosidosis. Gangliosidosis, also known as lysosomal storage disease, is a genetic condition that occurs when Korats dont ...
A Natural History Study of the Gangliosidoses Tay-Sachs Disease, Sandhoff Disease Recruiting Minnesota NCT00668187 ...
Passage Bio Reports Positive Interim Clinical Data from Study of First Eight Patients with GM1 Gangliosidosis. August 8, 2023 ... injection in six cohorts of pediatric subjects with early and late infantile GM1 Gangliosidosis (GM1). ...
GM1-Gangliosidosis Type III Associated Parkinsonism. Kaiyrzhanov R, Guliyeva U, Gulieva S, Salayev K, Mursalova A, Allahyarova ...
About GM1 and GM2 Gangliosidoses. GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases) are lysosomal ... with the potential to treat GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases) and Niemann Pick ... In 2022, the compound received Fast Track Designation for GM1 and GM2 gangliosidoses as well as NP-C and Orphan Drug ... and pharmacodynamics of AZ-3102 in patients with GM2 gangliosidosis and NP-C. The study will enroll 12 patients in total (6 ...
GM2 gangliosidosis (B variant) in two Japanese Chins: clinical - Texas A&M University (TAMU) Scholar profile, educations, ... GM2 gangliosidosis (B variant) in two Japanese Chins: clinical, magnetic resonance imaging and pathological characteristics. ...
  • Variants (also called mutations) in the GLB1 gene cause GM1 gangliosidosis. (medlineplus.gov)
  • GM1 gangliosidosis is a fatal, progressive, neurodegenerative lysosomal storage disease caused by mutations in the β-galactosidase ( GLB1 ) gene. (vin.com)
  • GM1 gangliosidosis is caused by an abnormal variation (mutation) in the GLB1 gene, which plays a role in producing beta-galactosidase. (unitedbrainassociation.org)
  • GLB1-related conditions including GM1-gangliosidosis and mucopolysaccharidosis type IVB (MPSIVB) are two distinct lysosomal storage disorders caused by mutations the GLB1 gene. (jewishgenetics.org)
  • The GM2 gangliosidoses are a group of three related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase. (wikipedia.org)
  • Deficiency of the lysosomal hydrolase, acid β -galactosidase, causes G M1 gangliosidosis and Morquio disease type B (ie, mucopolysaccharidosis type IVB ). (medscape.com)
  • GM1 gangliosidosis is due to an inherited deficiency of the enzyme beta-galactosidase, whereas GM2 gangliosidosis is caused by a lack of the enzyme beta-hexosaminidase. (labogen.com)
  • Suzuki Y, Oshima A, Nanba E. B-Galactosidase deficiency (B-Galactosidosis): GM1 gangliosidosis and Morquio B disease. (medscape.com)
  • GM1 gangliosidosis is caused by a deficiency of an enzyme called beta-galactosidase. (unitedbrainassociation.org)
  • Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis. (harvard.edu)
  • GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. (wikipedia.org)
  • GM2-Gangliosidosis variant AB, also known as Tay-Sachs disease AB Variant, is the rarest form of GM2-gangliosidoses. (preventiongenetics.com)
  • GM2-Gangliosidosis variant AB is inherited in an autosomal recessive manner and results from pathogenic variants in the GM2A gene (Schröder et al. (preventiongenetics.com)
  • GM2 gangliosidosis (B variant) in two Japanese Chins: clinical, magnetic resonance imaging and pathological characteristics. (tamu.edu)
  • Except in some rare, late-onset forms, the GM2 gangliosidoses are fatal. (wikipedia.org)
  • GM1 gangliosidosis is usually classified as one of three different types depending on the age of onset. (unitedbrainassociation.org)
  • Type IIa (Late Onset) Infantile GM1 Gangliosidosis (GM1). (cgtlive.com)
  • The differential diagnosis includes Canavan disease, alexander disease, and infantile-onset GM2 gangliosidosis. (eurorad.org)
  • There are no authorized therapies for the treatment of the GM2 Gangliosidosis (Tay-Sachs and Sandhoff disease). (wikipedia.org)
  • N-Acetyl-Leucine has been granted multiple orphan drug designations from the U.S. Food & Drug Administration (FDA) and the European Medicines Agency (EMA) and the European Medicines Agency (EMA) for the treatment of a various genetic diseases, including GM2 Gangliosidosis (Tay-Sachs and Sandhoff). (wikipedia.org)
  • Compassionate use studies in both Tay-Sachs and Sandhoff patients have demonstrated the positive clinical effects of treatment with N-Acetyl-Leucine for GM2 Gangliosidosis These studies further demonstrated that the treatment is well tolerated, with a good safety profile. (wikipedia.org)
  • citation needed] A multinational clinical trial investigating N-Acetyl-L-Leucine for the treatment of GM2 Gangliosidosis (Tay-Sachs and Sandhoff) began in 2019 Recruitment is ongoing. (wikipedia.org)
  • GM1 gangliosidosis is similar to Tay-Sachs disease and Sandhoff disease, but the disorders are caused by different gene mutations and enzyme deficiencies. (unitedbrainassociation.org)
  • They all presented with the acute form of GM2 gangliosidosis, which is clinically undistinguishable from the classical acute forms of Tay-Sachs and Sandhoff phenotypes (Gravel 2001). (preventiongenetics.com)
  • In 2022, the compound received Fast Track Designation for GM1 and GM2 gangliosidoses as well as NP-C and Orphan Drug Designations (ODD) for GM2 gangliosidosis (Sandhoff and Tay-Sachs Diseases) and NP-C from the FDA. (dutchnews.nl)
  • GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases) are lysosomal storage disorders caused by the accumulation of GM1 or GM2 gangliosides, respectively, in the central nervous system (CNS), resulting in progressive and severe neurological impairment and early death. (dutchnews.nl)
  • G M1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of G M1 ganglioside, oligosaccharides, and the mucopolysaccharide keratan sulfate (and their derivatives). (medscape.com)
  • All 3 types of G M1 gangliosidosis are inherited as autosomal recessive traits and have equal sex distributions. (medscape.com)
  • Conditions like GM1 gangliosidosis that cause molecules to build up inside lysosomes are called lysosomal storage disorders. (medlineplus.gov)
  • GM1 gangliosidosis is one of a group of diseases called lysosomal storage disorders. (unitedbrainassociation.org)
  • Azafaros is developing the compound as a potentially disease-modifying treatment in severe metabolic disorders including GM1 and GM2 gangliosidoses and NP-C. Enrollment of the first patient in the study is an important milestone for Azafaros in its mission to bring new treatment options to these patients and their families. (dutchnews.nl)
  • AZ-3102 is an orally available azasugar with a unique dual mode of action, developed as a potential treatment for rare lysosomal storage disorders with neurological involvement, including GM1 and GM2 gangliosidoses and Niemann-Pick disease type C (NP-C). (dutchnews.nl)
  • The gangliosidoses are progressive, fatal neurological diseases of cats, humans and other animals where gangliosides accumulate principally in neuronal lysosomes. (labogen.com)
  • Gene therapy for GM1 gangliosidosis: challenges of translational medicine. (ox.ac.uk)
  • New data from the ongoing Imagine-1 clinical trial (NCT04713475) demonstrate good safety and impressive improvements in clinically meaningful end points in patients with GM1 gangliosidosis treated with PBGM01, an investigational gene therapy from Passage Bio. (cgtlive.com)
  • Imagine-1 is a phase 1/2, global, open-label, dose-escalation study of the AAVhu68 gene therapy PBGM01 delivered by intra-cisterna magna (ICM) injection in six cohorts of pediatric subjects with early and late infantile GM1 Gangliosidosis (GM1). (globalgenes.org)
  • The gangliosidoses are progressive, fatal neurological diseases of cats where gangliosides. (labogen.com)
  • Although both types of gangliosidoses cause fatal progressive brain disease, they are caused by entirely different genetic errors of two different lysosomal enzymes. (labogen.com)
  • The current standard of care for GM2 Gangliosidosis disease is limited to supportive care and aimed at providing adequate nutrition and hydration. (wikipedia.org)
  • The US FDA has granted IntraBio a Rare Pediatric Disease Designation for N-Acetyl-Leucine for the treatment of GM2 Gangliosidosis. (wikipedia.org)
  • GM1-gangliosidosis is a glycosphingolipid lysosomal storage disease involving accumulation of GM1 and its asialo form (GA1) primarily in the brain. (nih.gov)
  • Two and a half years ago, we were faced with her diagnosis of GM1 gangliosidosis, a rare degenerative neurological disease. (themighty.com)
  • GM1 gangliosidosis is a progressive, degenerative brain and central nervous system disease. (unitedbrainassociation.org)
  • The early signs of GM1 gangliosidosis disease vary from case to case, and different forms of the disease have various initial symptoms. (unitedbrainassociation.org)
  • Gangliosidosis, also known as lysosomal storage disease , is a genetic condition that occurs when Korats don't have the enzymes to properly run their nervous system. (cyberpet.com)
  • The clinical trial is being conducted in Brazil and the US and will evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics across two doses of its lead asset, AZ-3102, in patients with GM2 gangliosidosis and Niemann-Pick disease type C (NP-C). (dutchnews.nl)
  • We remain focused on execution across our ongoing clinical programs and are excited to have dosed additional patients in our Imagine-1 trial for GM1 gangliosidosis as well as the first patient in our GALax-C trial for infantile Krabbe disease," said Bruce Goldsmith, Ph.D., president and chief executive officer of Passage Bio. (biospace.com)
  • The signs and symptoms of the most severe form of GM1 gangliosidosis, called type I or the infantile form, usually develop by the age of 6 months. (medlineplus.gov)
  • The infantile form of G M1 gangliosidosis (type 1) typically presents between birth and age 6 months with progressive organomegaly, dysostosis multiplex, facial coarsening, and rapid neurologic deterioration within the first year of life. (medscape.com)
  • GM1 gangliosidoses causes skeletal abnormalities, seizures, loss of vision and profound intellectual disability. (themighty.com)
  • Neurodegeneration is a prominent feature of the gangliosidoses, a group of lysosomal storage diseases. (ox.ac.uk)
  • There are several possible mechanisms by which the gangliosidoses may cause their pathological hallmarks. (medscape.com)
  • GM1 gangliosidosis is an inherited disorder that destroys nerve cells (neurons) in the brain and spinal cord. (medlineplus.gov)
  • The shares of the clinical-stage biotechnology company Recursion Pharmaceuticals ( RXRX -10.2% ) are set to close at an all-time low on Thursday after the company announced a delay for its Phase 2 trial for REC-3599 in rare genetic disorder, infantile GM2 gangliosidosis (GM). (seekingalpha.com)
  • Generalized gangliosidoses, or GM1 gangliosidosis, is a genetic disorder that results in the progressive destruction of neurons in the brain and spinal cord. (themighty.com)
  • However, the signs and symptoms of these three types can overlap, leading some researchers to believe that GM1 gangliosidosis occurs on a spectrum instead of as three distinct types. (medlineplus.gov)
  • The age at which symptoms first appear varies in people with GM1 gangliosidosis type III, although most affected individuals develop signs and symptoms in their teens. (medlineplus.gov)
  • Damage caused by the buildup of GM1 ganglioside leads to the destruction of neurons, causing many of the signs and symptoms of GM1 gangliosidosis. (medlineplus.gov)
  • In general, people with GM1 gangliosidosis have milder signs and symptoms if they have higher levels of functional β-galactosidase activity. (medlineplus.gov)
  • Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. (medscape.com)
  • Toy Poodle and Shiba Inu dogs affected with GM2- gangliosidosis develop nervous system clinical signs including vision loss, walking difficulties, loss of balance, tremors, cerebellar ataxia, decreased appetit and vomiting. (eurovetgene.com)
  • Here we show altered iron homeostasis in mouse models of both GM1 and GM2 gangliosidoses, which are characterized by progressive depletion of iron in brain tissue. (ox.ac.uk)
  • In this study, we successfully identified the two novel pathogenic mutations in feline GM1 gangliosidosis. (vin.com)
  • There are 2 main types of GM2 gangliosidosis, each of which can be caused by numerous different mutations. (msdmanuals.com)
  • We found that key regulators of iron homeostasis, hepcidin and IL-6, were increased in gangliosidoses mice. (ox.ac.uk)
  • Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice. (wikigenes.org)
  • Enzyme activity is markedly reduced in patients with G M1 gangliosidosis. (medscape.com)
  • A high frequency of G M1 gangliosidosis has been reported from Southern Brazil, and a large number of Japanese patients with the adult form have been reported. (medscape.com)
  • GM1 gangliosidosis type II occurs in one of two forms: the late infantile or the juvenile forms. (medlineplus.gov)
  • Individuals with GM1 gangliosidosis type II experience developmental regression but usually do not have cherry-red spots, coarse facial features, or enlarged organs. (medlineplus.gov)
  • GM1 gangliosidosis type III is the adult or chronic form of the condition, and this is the mildest form. (medlineplus.gov)
  • Life expectancy varies among people with GM1 gangliosidosis type III. (medlineplus.gov)
  • Inheritance of GM1 gangliosidosis appears to be type-specific. (unitedbrainassociation.org)
  • This form of G M1 gangliosidosis most frequently presents in early infancy and may be evident at birth. (medscape.com)
  • Life expectancy in those with GM1 gangliosidoses is usually early childhood. (themighty.com)
  • G M1 gangliosidosis is a rare disorder, and data concerning incidence are not widely available. (medscape.com)
  • GM1 gangliosidosis is a rare condition that causes the progressive degeneration of elements of the central nervous system. (unitedbrainassociation.org)
  • There are two types of gangliosidoses, GM1 and GM2 gangliosidosis. (labogen.com)
  • Recently, two different families of feline GM1 gangliosidosis caused by each different novel mutation were found in Japanese domestic shorthair cats. (vin.com)
  • Global GM1 Gangliosidosis Treatment market is poised to value over USD 447.8 million by 2028 end at a CAGR of over 36% during the forecast period 2021 to 2028. (articlewood.com)
  • Dive into the research topics of 'Hyperphosphatasemia in GM1 gangliosidosis. (vub.be)