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

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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Neuropathic pain in hereditary coproporphyria. Pak J Med Sci 2013;29(2):672-674.
Neuropathic pain in hereditary coproporphyria
Fecal coproporphyrin isomers in hereditary coproporphyria. Clin Chem 1992;38:96-100.
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
There was no biochemical evidence to support a diagnosis other than VP; in particular there was no evidence of AIP, hereditary coproporphyria, PCT, or a dual porphyria in which certain features of PCT, notably high concentrations of urinary uroporphyrin and heptacarboxylic porphyrin and fecal isocoproporphyrin, accompany the biochemical features of VP (23).
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
Hereditary neuroporphyrias [aminolevulinate dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, or variegate porphyria (VP)], and lead poisoning (LP), which is thought to be an acquired form of neuroporphyria, are characterized by enzymatic inhibitions along the heme biosynthetic pathway (1-3).
Lead poisoning: a new biochemical perspective on the differentiation between acquired and hereditary neuroporphyria
Acute hepatic porphyrias (acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP)) are inherited disorders of the heme biosynthesis pathway, which usually cause life-threatening acute attacks consisting of severe abdominal pain, nausea, vomiting, acute neuropathy, muscle weakness, even mental disturbances.
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Characterization by mutational analysis of suspected cases of VP should be considered an important clinical diagnostic tool because of the similarities in clinical presentation of VP, porphyria cutanea tarda (PCT), and hereditary coproporphyria. Furthermore, the use of DNA diagnostic methods enables detection of latent or asymptomatic mutation carriers at risk of developing VP.
Mutation screening of the entire coding region of the protoporphyrinogen oxidase gene using denaturing gradient gel electrophoresis and denaturing HPLC
It should be noted that no single test covering all porphyric possibilities exists and that caution is due: If porphyria is suspected, testing for porphyrins might not even yield an answer because in the inducible porphyrias (acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria), assays for porphyrin precursors ([partial derivative]-amino levulinic acid and porphobilinogen) are by far more helpful.
Porphyria conundrum

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