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Sandhoff disease is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. [1] [2] These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, [1] and some ...
Sandhoff disease is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. The disease results from mutations on chromosome 5 in the HEXB gene, critical for the lysosomal enzymes beta-N-acetylhexosaminidase A and B. Sandhoff disease is clinically indistinguishable from Tay ...
Sandhoff disease; Sanfilippo syndrome; Schilder's disease (two distinct conditions) Schizencephaly; Sclerosis; Seizures; Sensory processing disorder; Septo-optic dysplasia; Shaken baby syndrome; Shingles; Shy–Drager syndrome; Sjögren's syndrome; Sleep apnea; Sleeping sickness; Slurred speech; Snatiation; Sotos syndrome; Spasticity; Spina ...
Signs and symptoms of GM2-gangliosidosis, AB variant are identical with those of infantile Tay–Sachs disease, except that enzyme assay testing shows normal levels of hexosaminidase A. [2] Infantile Sandhoff disease has similar symptoms and prognosis, except that there is deficiency of both hexosaminidase A and hexosaminidase B. Infants with this disorder typically appear normal until the age ...
14667 Ensembl ENSG00000196743 ENSMUSG00000000594 UniProt P17900 Q60648 RefSeq (mRNA) NM_001167607 NM_000405 NM_010299 RefSeq (protein) NP_000396 NP_001161079 NP_034429 Location (UCSC) Chr 5: 151.21 – 151.27 Mb Chr 11: 54.99 – 55 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse GM2 ganglioside activator also known as GM2A is a protein which in humans is encoded by the GM2A gene ...
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Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme that is required for the catabolism of lipids that contain ceramide, [1] also relating to sphingolipid metabolism.
English: Sphingolipids and sphingolipidoses (Krabbe disease, Sandhoff´s disease, Tay-Sachs disease, Fabry´s disease, Gaucher´s disease, Niemann-Pick disease, metachromatic leucodystrophy) Date 15 April 2009