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Japanese Journal

リンク元	「スフィンゴリピドーシス」
関連記事	「病」

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.