Homozygous Variegate Porphyria: Vitamin E as a Possible Therapeutic Approach
نویسندگان
چکیده
منابع مشابه
Homozygous 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 کاملMolecular 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 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 کاملPropofol as an i.v. anaesthetic induction agent in variegate porphyria.
The choice of an i.v. anaesthetic induction poses problems for the anaesthetist confronted with a patient with one of the acute porphyrias. We undertook a prospective clinical trial in 13 variegate porphyric subjects using propofol as an anaesthetic induction agent. Urinary porphyrin precursors and porphyrins were measured before operation and 1-5 days after operation. Stool and plasma porphyri...
متن کاملSafe use of perampanel in a carrier of variegate porphyria.
1 NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK, and Epilepsy Society, Chalfont St Peter, SL9 0RJ, UK. 2 Neuroscience Department, Polytechnic University of Marche, Ancona 60100, Italy 3 Royal Victoria Infirmary, Newcastle-Upon Tyne, UK 4 Department of Laboratory...
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ژورنال
عنوان ژورنال: Journal of the Royal Society of Medicine
سال: 1987
ISSN: 0141-0768,1758-1095
DOI: 10.1177/014107688708000230