Last update 21 Mar 2024

Coproporphyria, Hereditary

Basic Info

Synonyms
Berger-Goldberg syndrome, COPROPORPHYRIA HEREDITARY, COPROPORPHYRIA, HEREDITARY
+ [30]
Introduction
An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.

Analysis

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