Search results
Results from the WOW.Com Content Network
The lysosomal storage diseases are generally classified by the nature of the primary stored material involved, and can be broadly broken into the following: (ICD-10 codes are provided where available) [citation needed] (E75) Lipid storage disorders. Gangliosidoses (including Tay–Sachs disease (E75.0-E75.1) - they are a subtype of sphingolipidoses
Tay–Sachs disease is inherited in an autosomal recessive pattern. The HEXA gene is located on the long (q) arm of human chromosome 15, between positions 23 and 24. Tay–Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each ...
The diseases are better known by their individual names: Tay–Sachs disease, AB variant, and Sandhoff disease. Beta-hexosaminidase is a vital hydrolytic enzyme, found in the lysosomes, that breaks down lipids. When beta-hexosaminidase is no longer functioning properly, the lipids accumulate in the nervous tissue of the brain and cause problems.
Pages in category "Lysosomal storage diseases" The following 9 pages are in this category, out of 9 total. ... Tay–Sachs disease This page was ...
The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive .
Tay–Sachs disease (4 P) Pages in category "Lipid storage disorders" ... Lysosomal acid lipase deficiency; M. Metachromatic leukodystrophy;
Many lipid storage disorders can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism. Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease, metachromatic leukodystrophy, multiple sulfatase deficiency, and Farber disease.
GM1 is a rare lysosomal storage disorder with a prevalence of 1 to every 100,000 to 200,000 live births ... National Tay-Sachs & Allied Diseases Association (NTSAD) ...