Lysosomal storage diseases (First Aid) – Flashcards
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which lysosomal storage diseases are sphingolipodoses?
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Fabry Caucher Niemann Pack Tay-Sachs Krabbe Metachromatic leukodystrophy
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which lysosomal storage diseases are Mucopolysaccharidoses?
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Hurler and hunter syndrome
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Fabry disease findings
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peripheral neuropathy of hands/feet angiokeratomas CV/renal disease
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what is the deficient enzyme in fabry disease?
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alpha-galactosidase A
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what is the accumulated substrate in fabry disease?
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ceramide trihexoside
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what is the inheritance pattern of fabry disease?
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x-linked recessive
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Gaucher disease findings
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*most common* hepatosplenomegaly pancytopenia aspectic necrosis of femer bone crises
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what is found on histology of gaucher disease?
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Guacher cells = lipid-laden macrophages resmbling crumpled tissue paper
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what is the treatment of gaucher disease?
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recombinant glucocerebrosidase
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what is the deficient enzyme in gaucher disease?
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glucocerebrosidase (beta-glucosidase)
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what is the accumulated substrate in guacher disease?
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glucocerebroside
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what is the inheritance pattern of gaucher disease?
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autosomal recessive
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Niemann-Pick disease findings
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progressive neurodegeneration hepatosplenomegaly *"cherry-red" spt* on macula
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what is found on histology of NP disease?
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foam cells = lipid-laden macrophages
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what is the deficient enzyme in NP disease?
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sphingomyelinase
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what is the accumulated substrate in NP disease?
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sphingomyelin
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what is the inheritance pattern of NP disease?
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autosomal recessive
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Tay-sachs disease findings
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progressive neurodegeneration (weakness, hypotonia, loss of motor skills) developmental delay *"cherry-red"* spot on macula *no hepatosplenomegaly*
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what is seen on histology of Tay-Sachs?
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neurons w/ cytoplasmic distension and *lysosomes w/ onion skin*
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what is the deficient enzyme in TS disease?
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hexosaminidase A Tay-Sa*X* lacks he*X*osaminidase
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what is the accumulated substrate in TS disease?
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GM2 ganglioside
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what is the inheritance pattern of TS disease?
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autosomal recessive
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Krabbe disease findings
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peripheral neuropathy developmental delay optic atrophy
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what is seen on histology of Krabbe disease?
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globoid cells
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what is the deficient enzyme in Krabbe disease?
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galactocerebrosidase
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what is the accumulated substrate in Krabbe disease?
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galactocerebroside, psychosine
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what is the inheritance pattern of Krabbe disease?
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AR
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Metachromatic leukodystrophy findings
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central and peripheral demyelination w/ ataxia dementia
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what is the deficient enzyme in ML disease?
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arylsulfatase A
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what is the accumulated substrate in ML disease?
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cerebroside sulfate
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what is the inheritance pattern of ML disease?
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AR
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Hurler syndrome findings
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developmental delay *gargoylsim* airway obstruction corneal clouding hepatosplenomegaly
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what is the deficient enzyme in Hurler syndrome?
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alpha-L-iduronidase
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what is the accumulated substrate in Hurler syndrome?
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heparan sulfate dermatan sulfate
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Hunter syndrome findings
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Mild hurler + aggressive behavior bilateral hearing loss *no corneal clouding* *Hunters* see clearly (no corneal clouding) and aggressively aim for the *X* (*X*-linked recessive)
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what is the deficient enzyme in Hunter syndrome?
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iduronate sulfatase
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what is the inheritance pattern of hunter syndrome?
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x-linked recessive
