Carbamoyl-Phosphate Synthetase I Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A congenital disorder caused by mutations in the CPS1 gene. It is characterized by accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures, developmental delay and mental disability.

**Synonyms:** - Carbamoyl Phosphate Synthetase Deficiency - Carbamoyl Phosphate Synthetase Deficiency