- Concept UI
- M0529166
- Scope Note
- Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
- Terms
-
Urea Cycle Disorders, Inborn
Preferred Term
Term UI
T734468
Date02/04/2009
LexicalTag
NON
ThesaurusID
NLM (2010)
-
Inborn Urea Cycle Disorder
Term UI
T734470
Date02/04/2009
LexicalTag
NON
ThesaurusID
-
Urea Cycle Disorders
Term UI
T734469
Date02/04/2009
LexicalTag
NON
ThesaurusID