Lysosomal Storage Diseases Flashcards
Gaucher disease
Deficient enzyme: Glucocerebrosidase (B-glucosidase)
Accumulated substrate: Glucocerbrosides
Findings: Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises, Gaucher cells (lipid laden macrophages resembling crumpled tissue paper). Tx is recombinant glucocerebrosidase
Autosomal recessive
Niemann-Pick disease
Deficient enzyme: Sphingomyelinase
Accumulated substrate: Sphingomyelin
Findings: Progressive neurodegeneration, foam cells (lipid laden macrophages), “Cherry-Red” spot on macula
Autosomal recessive
Tay Sachs
Deficient Enzyme: Hexoaminidase A
Accumulated Substrate: GM2 ganglioside
Findings: Progressive neurodegeneration, developmental delay, “Cherry red” spot on macula, lysosomes with onion skin, NO HEPATOSPLENOMEGALY
Autosomal recessive
Krabbe Disease
Deficient enzyme: Galactocerebrosidase
Substrate accumulation: Galactocerebroside, psychosine
Findings: peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Autosomal recessive
Metachromatic Leukodystrophy
Deficient enzyme: Arylsulfatse A
Substrate accumulation: cerebroside sulfate
Findings: central and peripheral demyelination with ataxia, dementia
Autosomal recessive
Hurler Syndrome
Deficient enzyme: a-L-iduronidase
Substrate accumulation: Heparan sulfate, dermatan sulfate
Findings: developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Autosomal recessive
Hunter syndrome
Deficient enzyme: Iduronate sulfatase
Substrate accumulation: Heparan sulfate, dermatan sulfate
Findings: Mild Hurler + aggressive behavior, no corneal clouding
X linked recessive
Fabry Disease
Deficient Enzyme: a-galactosidase A
Accumulated substrate: ceramide trihexoside
Findings: peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
X linked recessive
