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The primary enzyme defect in hereditary coproporphyria.

G H Elder, J O Evans, N Thomas

    Lancet (London, England)
    |December 4, 1976
    PubMed
    Summary
    This summary is machine-generated.

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    Hereditary coproporphyria (H.C.) is linked to reduced coproporphyrinogen oxidase activity. This enzyme defect may trigger acute porphyria attacks when uroporphyrinogen-I-synthase becomes rate-limiting for heme synthesis.

    Area of Science:

    • Biochemistry
    • Genetics
    • Metabolic Disorders

    Background:

    • Hereditary coproporphyria (H.C.) is an autosomal dominant disorder.
    • The clinical manifestations of H.C. primarily involve acute attacks of porphyria.

    Purpose of the Study:

    • To investigate the enzymatic defect in hereditary coproporphyria.
    • To elucidate the mechanism underlying acute attacks in H.C.

    Main Methods:

    • Enzyme activity assays in cultured skin fibroblasts.
    • Analysis of heme biosynthesis pathway enzymes.

    Main Results:

    • Coproporphyrinogen oxidase activity was approximately 50% lower in H.C. patients compared to controls.
    • This reduced activity is suggested as the primary defect in H.C., likely present in the liver as well.

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    Conclusions:

    • Reduced coproporphyrinogen oxidase activity is the primary defect in hereditary coproporphyria.
    • Acute porphyria attacks may occur when uroporphyrinogen-I-synthase activity becomes rate-limiting for heme synthesis.