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3 Cards in this Set
- Front
- Back
Zellweger sundrome |
disorder of peroxisome biogenesis (PEX mutation). hypotonia, seizures, hepatomegaly |
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Refsum syndrome |
disorder of α-oxidation ---> phytanic acid not metabolized to pristanic acid. scaly skin, ataxia, cataracts/night blindness, shortening of 4th toe, epiphysal dysplasia |
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adrenoleukodystrophy |
X-linked recessive disorder of β-oxidation (ABCD1 mutation) ---> VLCFA buildup in adrenal glands, white matter of the brain, testes |