Coriell Institute for Medical Research
Catabolic Pathway for Glycosphingolipids and Associated Storage Diseases  
Catabolic Pathway for Glycosphingolipids Gangliosidosis, Generalized GM1, Type I; Gangliosidosis, Generalized GM1, Type II Tay-Sachs Disease Tay-Sachs Disease AB Variant Sandhoff Disease Fabry Disease; Angiokeratoma Neuraminidase Deficiency Gaucher Disease, Type I; Gaucher Disease, Type II; Gaucher Disease, Type III Niemann-Pick Disease, Type A; Niemann-Pick Disease, Type B Krabbe Disease Farber Lipogranulomatosis Fabry Disease; Angiokeratoma Metachromatic Leukodystrophy
Clinical Disorder Gene Symbol
Gangliosidosis, Generalized GM1, Type I GLB1
Gangliosidosis, Generalized GM1, Type II GLB1
Tay-Sachs Disease HEXA
Tay-Sachs Disease AB Variant GM2A
Sandhoff Disease HEXB
Fabry Disease; Angiokeratoma, Diffuse GLA
Gaucher Disease, Type I GBA
Gaucher Disease, Type II GBA
Gaucher Disease, Type III GBA
Niemann-Pick Disease, Type A SMPD1
Niemann-Pick Disease, Type B SMPD1
Neuraminidase Deficiency NEU1
Neuraminidase Deficiency with Beta-Galactosidase Deficiency PPGB
Farber Lipogranulomatosis ASAH1
Krabbe Disease GALC
Metachromatic Leukodystrophy ARSA
The NIGMS Human Genetic Cell Repository has samples which derive from defects in steps in the catabolic pathway encoded by 11 genes as depicted in the diagram shown above. In addition, there are samples from neuraminidase deficiency with beta-galactosidase deficiency, caused by defects in the PPGB gene. By clicking on the symbol for the clinical disorder or enzymatic step in the diagram or the table, the list of the samples and the mutations in these samples appears. By clicking on the Gene Symbol a list of samples with characterized mutations appears.

Jeyakumar et al., Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis. Neuropathology and Applied Neurobiology 28: 343-357 (2002).   Abstract

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