- Concept UI
- M0025971
- Scope Note
- 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.
- Terms
-
Coproporphyria, Hereditary
Preferred Term
Term UI
T051033
Date10/01/1991
LexicalTag
NON
ThesaurusID
-
Coproporphyrinogen Oxidase Deficiency
Term UI
T551548
Date09/24/2003
LexicalTag
NON
ThesaurusID
-
Hereditary Coproporphyria
Term UI
T551547
Date09/24/2003
LexicalTag
NON
ThesaurusID