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.
synonyms:
UMLS_CUI:C0154246,
SNOMEDCT_US_2023_03_01:36444000,
NCI:C84785,
ICD10CM:E72.2,
disorder of urea cycle metabolism,
urea cycle defect,
MESH:D056806,
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia,
