Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to (CPS1D)

Alias:

Carbamoyl-Phosphate Synthase I Deficiency Disease

Carbamoyl Phosphate Synthetase I Deficiency Disease

Carbamoyl Phosphate Synthetase I Deficiency

Congenital Hyperammonemia, Type I

Cps I Deficiency

Cps1d

Carbamoyl-Phosphate Synthetase 1 Deficiency

Carbamoyl-Phosphate Synthetase I Deficiency

Carbamoylphosphate Synthetase I Deficiency

Carbamoyl-Phosphate Synthetase Deficiency

Carbamoyl Phosphate Synthetase Deficiency

Cps1 Deficiency

Hyperammonemia Due to Carbamoyl Phosphate Synthetase I Deficiency

Carbamyl-Phosphate Synthetase I Deficiency Disease

Carbamoyl Phosphate Synthetase 1 Deficiency

Deficiency, Carbamoylphosphate Synthetase I

Carbamylphosphate Synthetase Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to, also known as carbamoyl-phosphate synthase i deficiency disease, is related to carbonic anhydrase va deficiency, hyperammonemia due to and urea cycle disorder. An important gene associated with Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to is CPS1 (Carbamoyl-Phosphate Synthase 1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Ornithine and Glutamic acid have been mentioned in the context of this disorder. Affiliated tissues include liver and brain, and related phenotypes are seizure and hypotonia

Related ID：

MALACARDS：CRB186

OMIM：237300

MESH：D020165

ICD11：327894003