Variegate Porphyria: Past, Present and Future
- 1 December 1998
- journal article
- review article
- Published by S. Karger AG in Skin Pharmacology and Physiology
- Vol. 11 (6) , 310-320
- https://doi.org/10.1159/000029854
Abstract
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.Keywords
This publication has 11 references indexed in Scilit:
- Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase geneHuman Genetics, 1996
- The Porphyrias: Characteristics and Laboratory Tests [corrected title]Regulatory Toxicology and Pharmacology, 1996
- Cloning and Characterization of the Yeast HEM14 Gene Coding for Protoporphyrinogen Oxidase, the Molecular Target of Diphenyl Ether-type HerbicidesPublished by Elsevier ,1996
- The Human Protoporphyrinogen Oxidase Gene (PPOX): Organization and Location to Chromosome 1Genomics, 1995
- Cloning of a Human cDNA for Protoporphyrinogen Oxidase by Complementation in Vivo of a hemG Mutant of Escherichia coliPublished by Elsevier ,1995
- Early administration of heme arginate for acute porphyric attacksArchives of internal medicine (1960), 1993
- Dietary Regulation Of Cytochrome P450Annual Review of Nutrition, 1991
- A plasma porphyrin fluorescence marker for variegate porphyriaArchives of Dermatology, 1980
- The clinical and biochemical features of variegate porphyria: An analysis of 300 cases studied at Groote Schuur Hospital, Cape TownInternational Journal of Biochemistry, 1980
- Cutaneous changes in the porphyrias. A microscopic studyArchives of Dermatology, 1973