A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.

摘要

Erythropoietic protoporphyria (EPP) (OMIM 177000) is one of the nonacute, cutaneous porphyrias. The disease results from an inherited partial deficiency of ferrochelatase (FECH; EC 4.99.1.1), the eighth and ultimate enzyme in haem biosynthesis, that is located in the mitochondria and catalyses the insertion of iron into protoporphyrin DC to form haem. Although EPP is a rare disease overall, it is the most common type of porphyria manifesting in childhood with an estimated prevalence of one in 130 000.