DISEASES

Disease-gene associations mined from literature

Human genes for carbamoyl phosphate synthetase I deficiency disease

Carbamoyl phosphate synthetase I deficiency disease [DOID:9280]

Carbamoyl phosphate synthetase I deficiency (CPS I deficiency) is an autosomal recessive metabolic disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

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

Linkouts:  OMIM