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.
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Hereditary coproporphyria and variegate porphyria in Denmark.
Neuropathic pain in hereditary coproporphyria
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.
European specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program
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.
Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard
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).
Quantitative measurement of porphobilinogen in urine by stable-isotope dilution liquid chromatography-tandem mass spectrometry
Relation between uroporphyrin excretion, acute attack of hereditary coproporphyria and successful treatment with haem arginate.
Lead poisoning: a new biochemical perspective on the differentiation between acquired and hereditary neuroporphyria
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.
Mutation screening of the entire coding region of the protoporphyrinogen oxidase gene using denaturing gradient gel electrophoresis and denaturing HPLC
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).
Increased fecal porphyrins in acute intermittent porphyria

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