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Gangliosidosis deficiency is caused by a mutation in the GM2A gene.
12 working days
Swab, Blood EDTA, Blood Heparin, Semen, Tissue
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Gangliosidosis deficiency is caused by a mutation in the GM2A gene. This leads to progressive accumulation of GM2 ganglioside in neuronal lysosomes and subsequent fatal deterioration of central nervous system function. Also known as GM2 gangliosidosis type AB.
Central nervous symptoms such as locomotory incoordination and exaggerated startle response to sharp sounds. Symptoms generally starting to appear at approximately 14 months of age.
Pubmed ID: 16200419
Omia ID: 1427