Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.

Summary

Background:  Hepatoerythropoietic porphyria (HEP) is a rare form of porphyria that results from a deficiency of uroporphyrinogen decarboxylase (UROD). The disease is caused by homoallelism or heteroallelism for mutations in the UROD gene.


Objective:  To study a 19 year-old woman from Equatorial Guinea, one of the few cases of HEP of African descent and to characterize a new mutation causing HEP.


Methods:  Excretion of porphyrins and residual UROD activity in erythrocytes were measured and compared to other HEP patients. UROD gene of the proband was sequenced and a new mutation identified. The ...

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