Hepatic porphyrias is a form of
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hepatic porphyria — porphyria in which the excess formation of porphyrin or its precursors is found in the liver; it includes acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria … Medical dictionary
Porphyria — Any of a group of inherited diseases characterized by skin sensitivity to sunlight and/or by intermittent acute attacks of abdominal and nerve pain. The porphyrias are caused by enzyme defects that trigger the overproduction of porphyrins by the… … Medical dictionary
porphyria — /pawr fear ee euh, fuy ree euh/, n. Pathol. a defect of blood pigment metabolism in which porphyrins are produced in excess, are present in the blood, and are found in the urine. Also called hematoporphyria. [1920 25; PORPHYR(IN) + IA] * * * ▪… … Universalium
porphyria — n. one of a group of rare disorders due to inborn errors of metabolism in which there are deficiencies in the enzymes involved in the biosynthesis of haem. The accumulation of the enzyme s substrate gives rise to symptoms of the disorder. The… … The new mediacal dictionary
porphyria variegata — variegate porphyria (VP) an autosomal dominant hepatic porphyria due to mutation in the PPOX gene (locus: 1q22), which encodes protoporphyrinogen oxidase, resulting in partial deficiency of enzyme activity. It is characterized by various… … Medical dictionary
cutaneous hepatic porphyria — p. cutanea tarda … Medical dictionary
Porphyria — This article is about the medical condition. For other uses, see Porphyry (disambiguation). Porphyria Classification and external resources ICD 10 E80.0 E80.2 … Wikipedia
Porphyria cutanea tarda — DiseaseDisorder infobox Name = Porphyria cutanea tarda Caption = Porphyria cutanea tarda on the hands ICD10 = ICD10|E|80|1|e|70 ICD9 = ICD9|277.1 Porphyria cutanea tarda (PCT) is the most common subtype of porphyria. The disorder results from low … Wikipedia
Porphyria cutanea tarda — Literally, the late skin form of porphyria, a genetic photosensitive (light sensitive) skin disease with onset in adult life with substances called uroporphyrins in the urine due to a deficiency of uroporphyrinogen decarboxylase (UROD), an enzyme … Medical dictionary
Aminolevulinic acid dehydratase deficiency porphyria — (also known as Doss porphyria, [1] and Plumboporphyria [1]) is a cutaneous condition, disease can present during early childhood (as well as in adulthood) with acute neurologic symptoms that resemble those encountered in acute intermittent… … Wikipedia
