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Lysosomal Storage Dz

Lysosomal storage diseases

DescriptionLysosomal 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
Created by: kesselmb