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Carbamoyl phosphate synthetase I deficiency disease

MONDO:0009376

Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.

Also known as: CPS1 deficiency, CPS1D, carbamoyl phosphate synthetase I deficiency disease, carbamoyl phosphate synthetase deficiency, carbamoyl-phosphate synthase deficiency disease, carbamoyl-phosphate synthetase I deficiency, carbamoyl-phosphate synthetase deficiency, carbamoylphosphate synthetase I deficiency

28 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Urea cycle disorder (10) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Amino acid metabolism disease (0) Disease by developmental or physiological process (0)
Trials to join now! 15 Not yet recruiting 4 Not yet finished but already full! 4 Completed 5
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