Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.

ABSTRACT: Erythropoietic protoporphyria (EPP) is an inherited disorder of porphyrin metabolism in which decreased activity of ferrochelatase (FECH) leads to accumulation of protoporphyrin IX (PP IX) in red blood cells, plasma, liver, and bile, and increased PP IX excretion in feces. Clinically, EPP is characterized by photosensitivity that begins in early childhood and includes burning, swelling, itching, and painful erythema in sun-exposed areas. Chronic liver disease is an important complication in a minority of EPP patients, and in some cases liver transplantation has been performed. So far, about 110 different mutations and several polymorphisms have been characterized in the human FECH gene. The relationship between mutations, polymorphisms, and porphyria development in Argentinean patients was

SUBMITTER: Parera VE 

PROVIDER: S-EPMC2729100 | biostudies-literature | 2009 Nov-Dec

REPOSITORIES: biostudies-literature