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Carbamoyl Phosphate Synthetase I Deficiency

Abstract

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NORD is very grateful to Marshall L. Summar, MD, Chief, Genetics and Metabolism, Margaret O'Malley Professor of Genetic Medicine, Professor of Pediatrics, George Washington University, for assistance in the preparation of this report.

Synonyms of Carbamoyl Phosphate Synthetase I Deficiency

  • carbamoylphosphatase deficiency I
  • carbamoyl phosphate synthetase deficiency
  • carbamylphosphatase deficiency I
  • carbamyl phosphate synthetase I
  • CPSID
  • CPSI deficiency

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Carbamoyl phosphate synthetase I deficiency (CPSID) is a rare inherited disorder characterized by complete or partial lack of the carbamoyl phosphate synthetase (CPS) enzyme. This is one of five enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of the CPSI enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affected children may experience vomiting, refusal to eat, progressive lethargy, and coma. CPSID is inherited as an autosomal recessive genetic disorder.

The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine. Nitrogen is a waste product of protein metabolism. Failure to break down nitrogen results in the abnormal accumulation of nitrogen, in the form of ammonia, in the blood.

Carbamoyl Phosphate Synthetase I Deficiency Resources

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