Coproporphyria, Hereditary
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.
Year introduced: 2005
PubMed search builder options
Subheadings:
Tree Number(s): C06.552.830.074, C16.320.850.742.074, C17.800.827.742.074, C18.452.811.400.074
MeSH Unique ID: D046349
Entry Terms:
- Hereditary Coproporphyria
- Coproporphyrinogen Oxidase Deficiency
- Deficiency, Coproporphyrinogen Oxidase
Previous Indexing: