Lysosomal Storage diseases Flashcards
Which lysosomal storage disease is associated with renal failure?
Fabry’s disease
What is the method of inheritance of all except 2 lysosomal storage diseases?
Autosomal recessive
what are the 2 that are X-linked recessive?
Fabry’s and Hunter’s
What is the most common?
Gaucher’s
Which diseases are associated with an early death (by age 3)?
Tay Sachs, Neimann Pick, Krabbe’s disease
which disease is a demyelinating disease?
metachromatic leukodystrophy
Which has corneal clouding and mental retardation?
Hurler’s
Which has mental retardation but NO corneal clouding?
Hunter’s
Which is corneal clouding but no mental retardation?
Scheie’s
Which has alpha-L-iduronidase deficiency?
Hurler’s, Scheie’s
What enzyme deficiency is seen in Hunter’s?
Iduronate sulfatase
What enzyme deficiency is in Tay Sachs?
Hexosaminidase
Which disease has arylsulfatase A deficiency?
metachromatic leukodystrophy
Which has alpha-galactosidase A deficiency?
Fabry’s
Which has galactocerebrosidase deficiency leading to galactocerebroside accumulation?
Krabbe’s disease
What enzyme is deficient in Gauchers?
Beta-glucocerebrosidase –> glucocerebrosidase acumulation
What enzyme is deficient in Neimann-Pick’s?
Sphingomyelinase –> sphingomyelin accumulation
which is characterized by accumulation of GM2 glangioside?
Tay Sachs
Which diseases have accumulation of dermatin sulfate?
Hurler’s, Hunters, Scheie’s
Crinkled-paper cytoplasm
Gaucher’s
Cherry spot on retina DDx
Neimann pick, Tay Sachs, Central retinal artery occlusion
What is I-cell disease?
deficiency in mannose phosphorylation –> no mannose-6 phosphate to target lysosomal proteins –> secretion out of cell instead of into lysosomes
