hereditary coproporphyria


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coproporphyria

 [kop″ro-por-fir´e-ah]
any of various types of porphyria characterized by elevated levels of coproporphyrin in the body.
hereditary coproporphyria a hepatic porphyria transmitted as an autosomal dominant trait, characterized biochemically by constant excretion of coproporphyrin III in the feces and intermittent urinary excretion of coproporphyrin, α-aminolevulinic acid (ALA), and porphobilinogen (PBG). The condition is usually asymptomatic, but acute attacks resembling those of acute intermittent porphyria can occur.

he·red·i·tar·y cop·ro·por·phyr·i·a

an inherited (autosomal dominant) disorder of a deficiency of coproporphyrinogen oxidase, resulting in overproduction of porphyrin precursors leading to neurologic disturbances and photosensitivity.

hereditary coproporphyria

hereditary coproporphyria

Metabolic disease An AD porphyria caused by a 50% ↓ in coproporphyrinogen oxidase activity Clinical Neurologic dysfunction, photosensitivity Lab ↑ Fecal protoporphyrin. See Porphyria.
References in periodicals archive ?
Hereditary coproporphyria and variegate porphyria in Denmark.
Fecal coproporphyrin isomers in hereditary coproporphyria.
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.
Fecal analysis might then best be reserved for patients with otherwise negative tests, in whom hereditary coproporphyria would remain a possibility, or to provide supplemental information in difficult or interesting cases.
Porphobilinogen (PBG) [3] excretion in urine increases in acute porphyric attacks, and the measurement of PBG is particularly important in diagnosing the acute porphyrias (acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria) during the acute stage (7, 8).
Relation between uroporphyrin excretion, acute attack of hereditary coproporphyria and successful treatment with haem arginate.
This mutation screening assay is suitable for diagnosis of VP, thereby facilitating discrimination between VP and PCT or hereditary coproporphyria cases as well as detection of asymptomatic carriers of VP.
Most authorities agree that fecal porphyrin fractionation is required for the differential diagnosis of porphyria cutanea tarda, variegate porphyria (VP), and hereditary coproporphyria (HCP) (1,2).

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