Variegate porphyria: past, present and future.
Variegate porphyria, one of the acute hepatic porphyrias, is characterized by a partial reduction in protoporphyrinogen oxidase, the seventh enzyme of the heme biosynthetic pathway. For a long time, this disease has caused confusion among the porphyrias because it presents with clinical symptoms and biochemical findings that can be similar to those found in other types of porphyrias. Here, we provide an overview of historical, clinical, biochemical, genetical, and other aspects of variegate porphyria that might be helpful in providing more insight into this rare disorder.
Frank
J
J
Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA.
Christiano
A M
AM
D005420:Flavoproteins; D005544:Forecasting; D006418:Heme / Q000096:biosynthesis*; D006801:Humans; D024101:Mitochondrial Proteins; D010088:Oxidoreductases / Q000037:antagonists & inhibitors*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010787:Photosensitivity Disorders / Q000175:diagnosis; D017094:Porphyrias, Hepatic / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D050768:Protoporphyrinogen Oxidase
D005420:Flavoproteins; D024101:Mitochondrial Proteins; D006418:Heme; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase