Lysosomal Storage Diseases (Sphingolipidoses)
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WHAT ARE THE DEFICIENCY and Key Findings
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14 Terms
Tay-Sach’s Disease
Hexosaminidase A (GM2 ganglioside)
Fabry’s Disease
α-Galactosidase (Globotriaosylceramide)
Farber’s Disease
Ceramidase (Ceramide)
Metachromatic Leukodystrophy
Arylsulfatase A (3-sulfogalactosyl ceramide)
Krabbe’s Disease
β-Galactosidase (Galactosylceramide)
Gaucher’s Disease
β-Glucosidase (Glucosylceramide)
Niemann-Pick Disease
Sphingomyelinase (Sphingomyelin)
Tay-Sach’s Disease
Cherry red macula (but no hepatosplenomegaly) MR and hypotonia
Fabry’s Disease
3 Rs 1. Recessive, X-linked 2. Rash 3. Renal failure
Farber’s Disease
Triad of: 1. skin rash 2. hoarseness 3. bone malformation
Metachromatic Leukodystrophy
Psychologic disturbance in adults due to demyelination
Krabbe’s Disease
Mental retardation
Gaucher’s Disease
Most common lysosomal storage disease Hepatosplenomegaly + erosion of long bones
Niemann-Pick Disease
Hepatosplenomegaly
