Lysosomal storage diseases Flashcards
A patient is diagnosed with Niemann-Pick disease. What is the deficient enzyme, accumulated substrate, and inheritance pattern?
Krabbe disease is due to deficient galactocerebrosidase. & galactocerebroside and psychosine accumulate
A patient with heart/renal disease and a neuropathy has a lysosomal storage disorder. Name the deficient enzyme and accumulated substrate.
Fabry disease is marked by a deficiency of α-galactosidase A and accumulation of ceramide trihexoside
A patient has developmental delay, gargoylism, airway narrowing, and corneal clouding. Name the deficient enzyme and accumulated substrate.
Hurler syndrome is caused by α-L-iduronidase deficiency, which causes accumulation of heparan sulfate and dermatan sulfate
A patient is diagnosed with Niemann-Pick disease. What is the deficient enzyme, accumulated substrate, and inheritance pattern?
Sphingomyelinase; sphingomyelin (no man picks [Niemann-Pick] his nose with his sphinger); autosomal recessive
A man has hepatosplenomegaly, pancytopenia, a history of aseptic femur necrosis, and recurrent bone crises. What does a blood smear show?
Gaucher disease is characterized by Gaucher cells (macrophages that look like crumpled tissue paper)
A patient is diagnosed with Gaucher disease. What is the deficient enzyme, accumulated substrate, and inheritance pattern? How common is it?
Glucocerebrosidase (β-glucosidase); glucocerebroside; autosomal recessive; it is the most common of the lysosomal storage diseases
A boy has neurodegeneration, cherry-red macula, onion skin lysosomes, and a normal liver. Name the deficient enzyme and excess substrate.
Tay-Sachs disease is caused by hexosaminidase A deficiency (Tay-SaX [-Sachs] lacks heXosaminidase); GM2 ganglioside
A boy has central and peripheral demyelination with ataxia and dementia. Name the deficient enzyme, accumulated substrate, and inheritance.
Metachromatic leukodystrophy is caused by arylsulfatase A deficiency; cerebroside sulfate; autosomal recessive
A 2-year-old boy is diagnosed with Hunter syndrome. Name the deficient enzyme, accumulated substrate, and inheritance.
Iduronate sulfatase; heparan sulfate and dermatan sulfate; X-linked recessive
A boy has ataxia and dementia. Tests show that cerebroside sulfate is accumulating. What disease does he have, and what enzyme does he lack?
He has metachromatic leukodystrophy and lacks arylsulfatase A
