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 ?
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.
The HEXA gene mutation leads to the mutant [alpha]-subunit of the enzyme, causing [beta]-hexosaminidase A ([alpha][beta]) deficiency in Tay-Sachs disease, and the HEXB gene mutation, causing both [beta]-hexosaminidases A ([alpha][beta]) and B ([beta][beta]) deficiency in Sandhoff disease.
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.
Keira is the only Scot with Sandhoff Disease, a rare genetic condition which can kill children before they turn three.
There's a cat model for Sandhoff disease, which is GM2 gangliosidosis.
Furthermore, stem cells from mouse brains, from human-fetal brains, and from human embryos proved equally adept at battling the mouse version of Sandhoff disease.
2) Unfortunately, a second enzyme, HexB, whose deficiency causes Sandhoff disease, also cleaves the same artificial substrate.
Abigail had Sandhoff disease, a genetic illness that destroys nerve cells.
It remains to be seen if this method can consistently differentiate GM1 gangliosidosis (OMIM #230500) from mucopolysaccharidosis type IVB (Morquio disease, OMIM #253010) and Sandhoff disease (OMIM #268800) from Tay-Sachs disease due to AB and B1 variants (OMIM #272750 and #272800), as well as different subtypes of Gaucher disease (OMIM #230800, #230900, #230100, and others).