AHP is comprised of four subtypes, each resulting from a genetic defect leading to deficiency in one of the enzymes of the heme biosynthesis pathway in the liver: acute intermittent porphyria (AIP), hereditary
coproporphyria (HCP), variegate porphyria (VP), and ALAD-deficiency porphyria (ADP).
A molecular, enzymatic and clinical study in a family with hereditary
coproporphyria. J Inherit Metab Dis.
Clinically, porphyrias are classified as (a) acute attacks (neuropsychiatric) only, e.g., acute intermittent porphyria (AIP) and ALA dehydratase deficiency; (b) cutaneous (photosensitivity), e.g., porphyria cutanea tarda (PCT), congenital erythropoietic porphyria (CEP), and erythropoietic protoporphyria (EPP); (c) both cutaneous disease and acute attacks, e.g., variegate porphyria (VP) and hereditary
coproporphyria (HCP).
In contrast, in AIP, variegate porphyria, and hereditary
coproporphyria, urine PBG concentrations are increased as are urine ALA concentrations (Table 2).
J is diagnosed with hereditary
coproporphyria (HCP).
[1] The acute porphyrias that are inherited in an autosomal dominant pattern include acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary
coproporphyria, while acute porphyria due to 6-aminolaevulinic acid (ALA) dehydratase deficiency is an autosomal recessively inherited condition.
KEY WORDS: Hereditary
coproporphyria, Polyneuropathy, Neuropathic pain, Photosensitivity.
Hereditary
coproporphyria is usually latent before puberty.
The acute hepatic porphyrias are autosomal dominant conditions with low penetrance and include acute intermittent porphyria, hereditary
coproporphyria and variegate porphyria.
Molecular abnormalities of coproporphyrinogen oxidese in patients with hereditary
coproporphyria. J Bioenerg Biomembr 27:215-219.