Homozygous Variegate Porphyria: 20 y Follow-Up and Characterization of Molecular Defect
نویسندگان
چکیده
منابع مشابه
Molecular characterization of homozygous variegate porphyria.
Variegate porphyria (VP) is a low penetrance, autosomal dominant disorder that results from partial deficiency of protoporphyrinogen oxidase (PPOX) activity caused by mutation in the PPOX gene. The rare homozygous variant of VP is characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand and, less constantly, short ...
متن کاملHomozygous variegate porphyria: an evolving clinical syndrome.
Variegate porphyria is one of the most frequently encountered genetic conditions in South Africa. It is inherited as an autosomal dominant disease and in excess of 300 heterozygous cases have been studied by the Cape Town unit. Despite this, the homozygous condition has not previously been encountered in South Africa. We report two cases of homozygous variegate porphyria, one of whom represents...
متن کاملHomozygous variegate porphyria in South Africa: genotypic analysis in two cases.
Variegate porphyria is an autosomal dominant disorder of heme metabolism which results from decreased activity of the enzyme protoporphyrinogen oxidase. Clinically, the disease manifests postpubertally and is characterized by photocutaneous sensitivity and/or acute neurovisceral crises. However, in homozygous variegate porphyria, onset of the disease usually occurs in infancy with severe skin m...
متن کاملExpression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.
BACKGROUND Variegate porphyria (VP) is an inherited disorder of heme biosynthesis that results from a partial deficiency of protoporphyrinogen oxidase (PPOX). Patients with VP may experience acute neurovisceral attacks and cutaneous photosensitivity. To date we have characterized 109 VP patients representing 19 VP families in the Finnish population of 5 million, both biochemically and clinicall...
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AD, anterior descending coronary artery; CTO, chronic total occlusion; CX, circumflex coronary artery; F, female; LMC, left main coronary artery; M, male; RC, right coronary artery. a Patient no. 4 had chronic renal failure requiring hemodialysis, as well as severe peripheral arterial disease. Patient no. 7 had advanced chronic obstructive pulmonary disease. b Patient no. 4 had total occlusion ...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2001
ISSN: 0022-202X
DOI: 10.1046/j.1523-1747.2001.01293.x