[inherited errors in the metabolic reactions occurring in the liver that convert ammonia to urea, resulting from inborn genetic mutations. ( CSP )]
UMLS (CSP) C0596767 Relation/PAR: Amino Acid Metabolism, Inborn Errors
Relation/CHD: arginosuccinate synthetase deficiency
arginase deficiency
arginosuccinate lyase deficiency
OCP deficiency
CAPS deficiency