Porphyria erythropoetica congenita Günther

Abstract

The present condition of a now 18-year-old boy with congenital erythropoetic porphyria is reported. The case had been first described 15 years ago in this journal (Heilmeyer, L., et al.: Dtsch. med. Wschr.88 [1963], 2449). Physical and mental development has been normal. He has been on a maintenance dose of beta-carotene, 50 mg daily, for the last four years except during the winter months. This has allowed him to be in the open air in normal clothing. At the same time, the improvement in light tolerance has enable him to pursue normally the work of a biology laboratory technician. The genetic features are such that neither marriage nor children need be advised against.

Congenital Erythropoietic Porphyria

“…Recent classifications are based on the underlying genetic or acquired enzyme defect of porphyrin biosynthesis. Concerning CEP mainly case reports [11,12] and several reviews have been published [13][14][15][16][17][18][19][20]. CEP is an autosomal-recessive disorder of the porphyrin metabolism due to a homozygous defect of the enzyme uroporphyrinogen III cosynthase (synonyms: uroporphyrinogen III synthase, uroporphyrinogen III isomerase, hydroxymethylbilane hydrolase) [19,21].…”