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Lysosomal Storage Dz
Lysosomal storage diseases
Description | Lysosomal storage disease |
---|---|
Alpha-galactosidase A deficiency | Fabry's disease |
Glucocerebrosidase deficiency | Gaucher's disease |
Sphingomyelinase deficiency | Niemann-Pick disease |
Hexosaminidase A deficiency | Tay-Sachs disease |
Galactocerebrosidase deficiency | Krabbe's disease |
Arylsulfatase A deficiency | Metachromatic leukodystrophy |
Alpha-L-iduronidase deficiency | Hurler's syndrome |
Iduronate sulfatase deficiency | Hunter's syndrome |
Ceramide trihexoside accumulation | Fabry's disease |
Glucocerebroside accumulation | Gaucher's disease |
Sphingomyelin accumulation | Niemann-Pick disease |
GM2 ganglioside accumulation | Tay-Sachs disease |
Galactocerebroside accumulation | Krabbe's disease |
Cerebroside sulfate accumulation | Metachromatic leukodystrophy |
Autosomal recessive heparan sulfate and dermatan sulfate accumulation | Hurler's syndrome |
X-linked recessive heparan sulfate and dermatan sulfate accumulation | Hunter's syndrome |
X-linked recessive lysosomal storage disease with angiokeratomas, hypohidrosis, and acroparesthesia; may progress to cardiomyopathy and renal failure | Fabry's disease |
Most common lysosomal storage disease | Gaucher's disease |
Aseptic necrosis of the femur; macrophages that look like "crumpled tissue paper" | Gaucher's disease |
Cherry-red spot on macula; hepatosplenomegaly | Niemann-Pick disease |
Cherry-red spot on macula; no hepatosplenomegaly | Tay-Sachs disease |
Foamy vacuolated macrophages in bone marrow; on electron microscopy, lamellar lipid deposits in lysosomes known as "zebra bodies" | Niemann-Pick disease |
"Onion skin" lysosomes with whorled membranes; accumulation of glycosphingolipid with a single sialic acid residue | Tay-Sachs disease |
Multinucleated globoid cells | Krabbe's disease (also known as "globoid cell leukodystrophy") |
Heparan & dermatan sulfate accumulation; gargoylism | Hurler's syndrome |
Heparan & dermatan sulfate accumulation; aggressive behavior | Hunter's syndrome |
Heparan & dermatan sulfate accumulation; corneal clouding | Hurler's syndrome |