" /> Harderoporphyria - CISMeF





Preferred Label : Harderoporphyria;

Symbol : HARPO;

CISMeF acronym : HARPO;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coproporphyrinogen oxidase gene (CPO, 612732.0003);

Laboratory abnormalities : Increased serum ferritin; Increased coproporphyrin (urine); Red discoloration of urine; Increased urinary porphobilinogen (PBG, acute attack); Neonatal hyperbilirubinemia; Increased urinary 5-aminolevulinic acid (ALA, acute attack); Increased harderoporphyrin (urine and feces); Coproporphyrinogen oxidase deficiency ( 10% activity, lymphocytes); Increased RBC protoporphyrin;

Prefixed ID : #618892;

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30/07/2025


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