Bile and faecal porphyrins in the quiescent phase of variegate porphyria
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 کاملThe Excretion of Porphyrins in Congenital Porphyria.
In 1915 Hans Fischer identified the kinds and types of porphyrins excreted in congenital porphyria (1, 2, 3), and since that time 8 cases of this rare disease have been studied by qualitative, chemical methods (4 to 11). No quantitative studies of the total excretion of porphyrins in this condition have been made, however, and although reports of the therapeutic effect of liver extract on acute...
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 کاملDifferentiation of porphyria cutanea tarda symptomatica from other types of porphyria by measurement of isocoproporphyrin in faeces.
The faecal porphyrin patterns of 24 patients with porphyria cutanea tarda symptomatica (PCTS), eight patients with variegate porphyria, three patients with other types of porphyria, and 20 non-porphyrics subjects have been compared using a two-demensional thin layer chromatographic technique that separates porphyrins of the isocoproporphyrin series from other faecal porphyrins. The 'isocopropor...
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ژورنال
عنوان ژورنال: Biochemical Journal
سال: 1968
ISSN: 0264-6021,1470-8728
DOI: 10.1042/bj1100015pa