Term
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Definition
autosomal recessive lysosomal storage disease
Accumulation of glucocerebrosidase in lysosomes.
ashkenazi jews (eastern european)
Sxs - skeletal disease (avascular necrosis, bone pain), anemia, thrombocytopenia, HSM is MC sign. Marrow biopsy shows lipid laden macrophages stain + w/ PAS. |
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Term
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Definition
X-linked recessive lysosomal storage disease
Deficient alpha-galactosidase A -> accumulation of ceramide trihexoside in lysosomes.
Sxs - peripheral neuropathy of hands and feet, angiokeratomas, telangiectasias, LV hypertrophy, proteinuria.
VSM accumulation -> occlusion, ischemia, infarction
Confirm w/ low alpha glactosidase A activity in leukocytes |
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Term
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Definition
autosomal recessive lysosomal storage disease
Deficient beta-galactocerebrosidase -> accumulation of galactocerebroside.
Sxs - peripheral neuropathy (in all pts), development delay, optic atrophy, demyelination and PAS + multinucleated globoid cells.
Present in first 6 months
Confirm w/ low beta-galactocerebrodase activity |
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Term
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Definition
autosomal recessive lysosomal storage disease
deficient sphingomyelinase -> accumulation of sphingomyelin in lysosomes.
ashkenazi jews
Sxs - progressive neurodegeneration, HSM, cherry red spot, loss of early motor skills in early life, peripheral neuropathy seen by hypotonia and absent reflexes.
Confirm - large lipid laden foam cells in RE system. |
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Term
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Definition
autosomal recessive storage disease
Deficient hexosaminidase A.
accumulated GM2 ganglioside
sxs - progressive neurodegeneration, develop delay, cherry red spot, onion skinning lysosomes. No HSM (opposite of NP). seizures, spasticity, blindness, dementia are late. pt dies from bronchopneumonia by 4.
ashkenazi jews |
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