DISEASES

Disease-gene associations mined from literature

Human genes for carbamoyl phosphate synthetase I deficiency disease

Carbamoyl phosphate synthetase I deficiency disease [DOID:9280]

An amino acid metabolic disorder that involves accumulation of ammonia in the blood.

Synonyms:  carbamoyl phosphate synthetase I deficiency disease,  carbamoyl phosphate synthetase I deficiency disorder,  carbamoyl phosphate synthetase I deficiency syndrome,  DOID:9280,  CPS I deficiency

Linkouts:  OMIM