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Carbamoyl phosphate synthase 1 deficiency

Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency, CPS 1 deficiency, Carbamyl phosphate synthetase (CPS) deficiency

Overview

Carbamoyl phosphate synthetase I deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. It is an inherited 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. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some individuals have a less severe form of the deficiency, and have milder symptoms that may not appear until later in life. Carbamoyl phosphate synthetase I deficiency is caused by mutations in the CPS1 gene and is inherited in an autosomal recessive fashion.

Symptoms - Carbamoyl phosphate synthase 1 deficiency

  • Elevated blood ammonia level
  • Lethargy
  • Coma if untreated
  • Seizures
  • Lack of appetite
  • Aminoaciduria
  • Episodic ammonia intoxication
  • Hyperammonemia
  • Hypoargininemia
  • Muscular hypotonia
  • Respiratory insufficiency

Causes - Carbamoyl phosphate synthase 1 deficiency

Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.

Prevention - Carbamoyl phosphate synthase 1 deficiency

Not supplied.

Diagnosis - Carbamoyl phosphate synthase 1 deficiency

Healthcare professionals typically look at a person's medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. 

Prognosis - Carbamoyl phosphate synthase 1 deficiency

Not supplied.

Treatment - Carbamoyl phosphate synthase 1 deficiency

Not supplied.

Resources - Carbamoyl phosphate synthase 1 deficiency

  • NIH
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