The porphyrias represent a heterogeneous group of disorders of porphyrin or porphyrin-precursor metabolism, resulting from the inherited or acquired dysregulation of one of the eight enzymes in the porphyrinheme biosynthetic pathway. Variegate porphyria, one of the acute hepatic porphyrias, is chara
The genetic basis of “Scarsdale Gourmet Diet” variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene
✍ Scribed by Jorge Frank; Maureen B. Poh-Fitzpatrick; Lloyd E. King Jr.; A. M. Christiano
- Book ID
- 106079397
- Publisher
- Springer-Verlag
- Year
- 1998
- Tongue
- English
- Weight
- 131 KB
- Volume
- 290
- Category
- Article
- ISSN
- 0340-3696
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Variegate Porphyria (VP) is one of the acute hepatic porphyrias, and is clinically characterised by skin lesions and acute neuropsychiatric/visceral attacks that occur separately or together. The disorder is caused by a partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the
Variegate porphyria is an autosomal dominant disorder of haem metabolism resulting from a partial decrease in protoporphyrinogen oxidase activity. Variegate porphyria is highly prevalent in South Africa, the result of a founder effect now confirmed genetically as a single point mutation (R59W) which