Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, with 1ife.threatening acute attacks pre
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Acute intermittent porphyria: A single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide
โ Scribed by Lee, Grace Y. ;Astrin, Kenneth H. ;Desnick, Robert J.
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 518 KB
- Volume
- 58
- Category
- Article
- ISSN
- 0148-7299
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Glycogen storage disease type III (GSD-III) is an autosomal recessive disease resulting from deficient glycogen debranching enzyme (ODE) activity. A child with GDE deficient in both liver and muscle (GSD-IIIa) had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly and died at 4