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Flashcards in Lysosomal storage diseases Deck (11):

In which lysosomal storage diseases does glucocerebroside accumulate?

Gaucher disease


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?

Ceramide trihexoside

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?

Gaucher disease


Hunter and Hurler syndromes are both mucopolysaccharidose diseases. What are the major clinical differences? Genetic differences?

Hurler syndrome presents with hepatosplenomegaly and corneal clouding; Hunter syndrome presents with aggressive behavior

Hurler syndrome is AR; Hunter syndrome is XR