Flashcards in Lysosomal storage diseases Deck (11):
In which lysosomal storage diseases does glucocerebroside accumulate?
What is the deficient enzyme in the lysosomal storage disease that presents with neurodegeneration, "cherry-red" spot on macula, and foam cells in INFANT/TODDLER?
Sphingomyelinase deficiency causes the accumulation of sphingomyelin in Niemann-Pick Disease
Fabry disease is an X-linked recessive deficiency of alpha-galactosidase A. What substrate accumulates? What is the expected presentation?
Peripheral neuropathy (hands/feet), angiokeratomas, cardiovascular/renal disease in early CHILDHOOD
(Angiokeratomas: painless red/blue lesions with keratosis)
What is the expected presentation with a glucocerebrosidase (beta-glucosidase) deficiency?
Gaucher Disease presents with hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone crises, Gaucher cells
(Gaucher cells: lipid-laden macrophages resembling crumpled tissue paper)
Niemann-Pick disease and Tay-Sachs disease both present with "cherry-red" spot on macula and progressive neurodegeneration. What is seen in Niemann-Pick that is not seen in Tay-Sachs? What is seen in Tay-Sachs that is not seen in Niemann-Pick?
Niemann-Pick has Hepatosplenomegaly and foam cells
Tay-Sachs has lysosomes with onion skinning
A patient has some developmental delay, gargoylism, airway obstruction, hepatosplenomegaly, AND an aggressive behavior. This condition is seen in some of his male ancestors/relatives. What deficient enzyme? What substrate is accumulating?
Iduronate sulfatase is deficient in Hunter Syndrome
Heparan sulfate, dermatan sulfate accumulate in Hunter Syndrome
What is the deficient enzyme in Tay-Sachs Disease?
Hexosaminidase A deficiency causes an accumulation of GM(2) ganglioside
A patient has deficient arylsulfatase A leading to the accumulation of cerebroside sulfate. What is the expected presentation?
Metachromatic leukodystrophy presents with central and peripheral demyelination with ataxia and dementia
A patient presents with an accumulation of heparan sulfate and dermatan sulfate AND hepatosplenomegaly and corneal clouding. What enzyme is deficient in this patient?
Alpha-L-iduronidase is deficient in Hurler Syndrome
What is the most common of the lysosomal storage diseases?