Carbamoyl Phosphate Synthetase I Deficiency

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.

Read more about Carbamoyl Phosphate Synthetase I Deficiency:  Symptoms, Genetics, Pathophysiology

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Carbamoyl Phosphate Synthetase I Deficiency - Pathophysiology
... 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 ... In carbamoyl phosphate synthetase I deficiency, the enzyme that regulates the urea cycle is damaged or missing ...

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