Molecular, Immunological, Enzymatic and Biochemical Studies of Coproporphyrinogen Oxidase Deficiency in a Family with Hereditary Coproporphyria

    February 2002 in “ PubMed ”
    U. Groß, Hervé Puy, Alexandra Kühnel, U. Meissauer, Deybach Jc, K. Jacob, Pavel Martásek, Y Nordmann, Doss Mo
    TLDR A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
    The study focused on a family with hereditary coproporphyria, particularly a 27-year-old woman experiencing symptoms like hair loss and dark urine. The research identified a novel mutation in the coproporphyrinogen oxidase gene, characterized by a cytosine to thymine transversion at nucleotide position 854 in exon 4. The patient exhibited decreased coproporphyrinogen oxidase activity (35% of normal), while her mother and sisters were heterozygous carriers with up to 50% activity. The father showed no genetic abnormalities. The study highlighted the biochemical and molecular basis of the condition, noting increased urinary porphyrin metabolites and decreased enzyme activity in affected family members.
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