Lysosomal Storage Diseases Flashcards
Clinical: Metachromatic leukodystrophy
Central and peripheral demyelination
Ataxia
Dementia
Deficient enzyme: Hurler syndrome
Alpha-L-iduronidase
Accumulated substrate: Fabry
Ceremide trihexoside
Clinical: Hurler
Developmental delay Gargoylism Airway obstruction Corneal clouding Hepatosplenomegaly
Deficient enzyme: Metachromatic leukodystrophy
Arylsulfatase A
Accumulated substrate: Krabbe
Galactocerebroside
Psychosine
Clinical: Niemann-Pick
Progressive neurodegeneration
Hepatosplenomegaly
Foam cells
Cherry-red spot on macula
Deficient enzyme: Tay-Sachs
Hexosaminidase A
Deficient enzyme: Gaucher
Glucocerebrosidase
beta-glucosidase
Accumulated substrate: Gaucher
Glucocerebroside
Accumulated substrate: Metachromatic leukodystrophy
Cerebroside sulfate
Deficient enzyme: Hunter syndrome
Iduronate sulfatase
Clinical: Fabry (EARLY)
Episodic peripheral neuropathy
Angiokeratomas
Hypohidrosis
Accumulated substrate: Hunter and Hurler syndromes
Heparin sulfate
Dermatan sulfate
Clinical: Krabbe
Rapidly progressive stiffness and weakness (usually beginning 3-6 months of age; death by age 2)
Peripheral neuropathy
Developmental delay
Optic atrophy
Globoid cells
Accumulated substrate: Niemann-Pick
Sphingomyelin
Enzyme deficiency: Hunter syndrome
Iduronate sulfatase
Clinical: Fabry (LATE)
Progressive renal failure
Cardiovascular disease
Clinical: Tay-Sachs
Progressive neurodegeneration Developmental delay Cherry-red spots on macula Lysosomes with "onion skin" NO hepatosplenomegaly (vs Neimann-Pick)
Deficient enzyme: Krabbe
Galactocerebrosidase
beta-galactosidase
Deficient enzyme: Fabry
Alpha-galactosidase A
Clinical: Hunter
Mild Hurler + aggressive behavior
No corneal clouding
Deficient enzyme: Niemann-Pick
Sphingomyelinase
Clinical: Gaucher
Hepatosplenomegaly Pancytopenia Osteoporosis Avascular necrosis of femur Bone crises Gaucher cells
