Last update 01 Nov 2024

Porphyria, Erythropoietic

Basic Info

Synonyms
CEP, CEP - Congenital erythropoietic porphyria, Congenital Erythropoietic Porphyria
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Introduction
An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.

Analysis

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