Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
3 Cards in this Set
- Front
- Back
|
Zellweger sundrome |
disorder of peroxisome biogenesis (PEX mutation). hypotonia, seizures, hepatomegaly |
|
|
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 |
|
|
adrenoleukodystrophy |
X-linked recessive disorder of β-oxidation (ABCD1 mutation) ---> VLCFA buildup in adrenal glands, white matter of the brain, testes |
