Lysosomal storage diseases

oyinda19's version from 2015-06-21 23:01

Section 1

Question Answer
Peripheral neuropathy of hands and feet, angiokeratomas, cardiovascular and renal diseaseFabry disease
Most common LSDGaucher disease
Progressive neurodegeneration, hepatosplenomegaly, foam cells (lipid- laden macrophages)Neiman pick disease
cherry red spot on macula, lysosomes with onion skin, no hepatosplenomegalyTay Sachs disease
Peripheral neuropathy, developmental delay, optic atrophy and globoid cellsKrabbe disease
Central and peripheral demyelination with ataxia, dementiaMetachromatic leukodystrophy
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegalyHurler Syndrome
Mild Hurler + aggressive behavior, no corneal cloudingHunter syndrome
X linked recessive Lysosomal Storage DiseaseFabry and Hunter
inherited mutation in enzyme necessary for production or maintenance of myelinMetachromatic leukodsytrophy

Section 2

Question Answer
what enzyme is deficient and what accumulates in Fabry?Deficient: Alpha galactosidase A, Accumulated substance: Ceramide trihexoside
in Gaucher?Deficient: Glucocerebrosidase (beta glucosidase), Accumulated: Glucocerebroside
In Niemanpick disease?Def: Sphingomyelinase, Accumulated: Sphingomyelin
in Tay sachs disease?Def: hexosoaminidase A, Accumulated: GM2 ganglioside
Krabbe diseaseDef: Galactocerebrosidase, Accumulated: Galactocerebroside, psychosine
Metachromatoc leukodystrophyDef: Arylsulfatase A, Accumulated: Cerebroside Sulfate
Hurler syndrome?Def: alpha L iduronidase, Accumulated: heparan and dermatan sulfate
Hunter syndrome?Def: Iduronate sulfatase. Accumulated: Heparan and dermatan sulfate