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21 Cards in this Set
- Front
- Back
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4 categories of metabolic d/o
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lysosomal storage d/o
peroxismal d/o mitochondrial d/o AA d/o |
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metabolic issue in lysosomal stroage d/o
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normal products accumulate in lysosomes -> lysosomes become nonfunctional -> cell swells b/c of stuffed up lysosomes
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clinical course of lysosomal storage d/o
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Pt is normal at birth
SX usually present in infancy or early childhood (some are mild enough to present in adulthood) Progressive deterioration |
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types of lysosomal storage d/o
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neuronal lipidoses
leukodystrophy mucopolysaccharidoses storage histiocytosis |
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neuronal lipidoses include
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gangliosidosis
mucopolysaccharidosis neuronal ceroid lipofuscinoses |
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mucopolysaccharidoses affect the rest of the body b/c they involve
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chondroitin sulfate in CT adn so cause edema and deformity
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Storage histiocytosis ex.
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Gaucher Dz.
Nieman Pick |
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Storage histiocytosis affect brain or rest of the body more
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rest of the body
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Tay Sachs dz. affects 1oly
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Ashkenazi Jews
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clinical features of Tay Sach's
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progressive dementia
motor incoordination w/ muscular flaccidity blindness death by 2-3 |
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mechanism of Tay Sach's
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def of hexosaminidase A -> GM2 ganglioside accumulates in heart, liver and brain
affects neurons worse |
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Neuropathology of Tay Sacch's
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neurons are balloned w/ cytoplasmic vacuoles each of which is a lysosome distended w/ ganglioside
ultimately neurons die and released lipid accumulates w/in microglia / macrophages retinal ganglion cells are also affected -> cherry red spot |
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metabolic d/o that affect WM cause
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leukodystropies adn loss of myelin
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in leukodystrophy _ is lost first
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motor function
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leukodystrophy is characterized by abnormality of
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myelin metabolism
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metachromatic leukodystrohpy is a metabolic d/o of _ metabolism
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sphingomyelin
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enzyme that def in ML
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arylsulfatase A
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_ accumulates in ML
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galactosyl sulfatide
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accumulated galactosyl sulfatide forms _
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intracellualr and extracellualr spherical granular masses which are metachromatic w/ cresyl violet
Metachromasia refers to the staining qualities that differ from that expected. Sulfatide stains brown |
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in CNS and PNS there is demyelination w/ accumation of metachromatic material w/in
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M0 and Schwann cells
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in ML there is extensive _ but sparing of _
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cerebral demyelination
subcortical white matter |
