CPOX
CPOX is the gene that encodes coproporphyrinogen oxidase, a mitochondrial enzyme involved in the third overall step of heme biosynthesis. In humans, the CPOX-encoded enzyme catalyzes the oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a reaction that requires molecular oxygen as part of the pathway that ultimately produces heme and its derivatives.
The CPOX enzyme is localized to the mitochondria, where it participates in the intracellular supply of protoporphyrin
Genetically, CPOX is a nuclear gene situated on chromosome 3 (3q12.2). Mutations in CPOX can cause hereditary
Clinically, HCP presents mainly with neurovisceral symptoms during acute attacks, including abdominal pain, nausea, vomiting, neuropathies,
Diagnosis is based on biochemical testing showing elevated urinary coproporphyrin levels and supportive porphyrin precursor profiles,