Sandhoff disease


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Sand·hoff dis·ease

(sahnd'hof), [MIM*268800]
an infantile form of GM2 gangliosidosis characterized by a defect in the production of hexosaminidases A and B; it resembles Tay-Sachs disease, but occurs predominantly (if not entirely) in non-Jewish children; accumulation of glucoside and ganglioside GM2, caused by mutation in hexoaminidase B gene (HEX B) on chromosome 5q.

Sandhoff disease

(sănd′hôf′)
n.
A form of gangliosidosis that resembles Tay-Sachs disease but rarely affects persons of Jewish descent, characterized by a defect in the production of two forms of hexosaminidase.

Sand·hoff dis·ease

(sahnd'hof di-zēz')
An infantile form of GM2 gangliosidosis characterized by a defect in the production of hexosaminidases A and B; it resembles Tay-Sachs disease, but occurs predominantly (if not entirely) in non-Jewish children; accumulation of glucoside and ganglioside Gm2, caused by mutation in hexoaminidase B gene (HEX B) on chromosome 5q.

Sandhoff,

K., contemporary German biochemist.
Sandhoff disease - a lysosomal storage disease. Synonym(s): Sandhoff syndrome
Sandhoff syndrome - Synonym(s): Sandhoff disease
References in periodicals archive ?
Our current pipeline of gene therapy candidates targets GM1 gangliosidosis, GM2 gangliosidosis (including Tay-Sachs disease and Sandhoff disease), and Parkinson's disease.
Due to the high unmet medical need, the company is initially prioritizing the development of the IB1000s series for the treatment of three orphan indications, including Niemann Pick disease Type C (NPC), inherited Cerebellar Ataxias (CA), GM2 Gangliosidosis (Tay-Sachs and Sandhoff disease), for which there are currently no approved therapies.
GM2 gangliosidoses including Tay-Sachs disease [TSD, Online Mendelian Inheritance in Man (OMIM) 272800], Sandhoff disease (SD, OMIM 268800) and GM2 activator protein deficiency (GM2; OMIM 272750) are rare lysosomal storage disorders of the sphingolipid metabolism due to an autosomal recessive inheritance.
At 2 years of age, comprehensive screening for metabolic disorders was completed including mannosidosis, fucosidosis, metachromatic leukodystrophy, Sandhoff disease, lysosomal storage diseases, GM1 gangliosidosis, Krabbe disease, and mucopolysaccharidosis (types 13 and 6).
Bello et al., "Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates," Molecular Therapy, vol.
A series of tests found she had Sandhoff disease, a genetic illness that destroys nerve cells, and doctors said she would not live beyond the age of four.
Conditions associated with hepatosplenomegaly like Gaucher disease, hexosaminidase A deficiency, Sandhoff disease, Niemann-Pick disease type C, Wolman disease, the mucopolysaccharidoses.
Incidence and carrierfrequency of Sandhoff disease in Saskatchewan determined using a novel substratewith detection by tandem mass spectrometry and molecular genetic analysis.
[GM.sub.2]-Gangliosidoses are a group of neurogenetic diseases due to [beta]-hexosaminidase deficiency (Tay-Sachs disease and Sandhoff disease).
It includes the GM2 storage disorders, Tay-Sachs and Sandhoff disease, and the GM1 storage disorders.
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease. Hum Mol Genet 1994; 3(1): 139-145.