Term Name: urea cycle disorder
Synonyms: disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia, disorder of urea cycle metabolism, urea cycle defect
Definition: An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
Ontology: Human Disease [DOID:9267]   ( DOID:9267 )

Relationships
is a type of: amino acid metabolic disorder
has subtype: carbamoyl phosphate synthetase I deficiency disease citrullinemia hyperargininemia N-acetylglutamate synthase deficiency ornithine carbamoyltransferase deficiency