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

ABSTRACT:

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 with those of other patients with HEP. The UROD gene of the proband was sequenced and a new mutation identified. The recombinant UROD protein was purified and assayed for enzymatic activity. The change of amino acid mapped to the UROD protein and the functional consequences were p

SUBMITTER: To-Figueras J 

PROVIDER: S-EPMC3818800 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature