Homozygous hereditary coproporphyria (Q97011)

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This is a hereditary autosomal-dominant disorder of heme biosynthesis resulting from a partial deficiency of coproporphyrinogen oxidase. It is clinically characterised by neurologic dysfunction attacks and occasional photosensitivity. This disease is rare before puberty, and all reported early-onset cases have been in the homozygous or the compound heterozygous state.
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ID_1508947573
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    Homozygous hereditary coproporphyria
    This is a hereditary autosomal-dominant disorder of heme biosynthesis resulting from a partial deficiency of coproporphyrinogen oxidase. It is clinically characterised by neurologic dysfunction attacks and occasional photosensitivity. This disease is rare before puberty, and all reported early-onset cases have been in the homozygous or the compound heterozygous state.

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      CID11:ID_1508947573
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      dki-india-ID_1508947573
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      Concluído
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      15 August 2026
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