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リンク元 | 「スフィンゴリピドーシス」 |
Disease | Enzyme Deficiency | Lipid Accumulating | Clinical Symptoms |
Tay-Sachs disease | Hexosaminidase A | Cer-Glc-Gal(NeuAc)-: : GalNAc GM2 Ganglioside |
Mental retardation, blindness, muscular weakness. |
Fabry's disease | α-Galactosidase | Cer-Glc-Gal-: : Gal Globotriaosylceramide |
Skin rash, kidney failure (full symptoms only in males; X-linked recessive). |
Metachromatic leukodystrophy | Arylsulfatase A | Cer-Gal-: : OSO3 3-Sulfogalactosylceramide |
Mental retardation and psychologic disturbances in adults; demyelination. |
Krabbe's disease | β-Galactosidase | Cer-: : Gal Galactosylceramide |
Mental retardation; myelin almost absent. |
Gaucher's disease | β-Glucosidase | Cer-: : Glc Glucosylceramide |
Enlarged liver and spleen, erosion of long bones, mental retardation in infants. |
Niemann-Pick disease | Sphingomyelinase | Cer-: : P-choline Sphingomyelin |
Enlarged liver and spleen, mental retardation; fatal in early life. |
Farber's disease | Ceramidase | Acyl-: : Sphingosine Ceramide |
Hoarseness, dermatitis, skeletal deformation, mental retardation; fatal in early life. |
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