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Disease Carbamoyl-Phosphate Synthase I Deficiency Disease

Name Carbamoyl-Phosphate Synthase I Deficiency Disease
Synonyms Carbamoyl Phosphate Synthase 1 Deficiency | Carbamoyl Phosphate Synthase 1 Deficiency Disease | Carbamoyl-Phosphate Synthase 1 Deficiency Disease | Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) | Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) | Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease | Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) | Carbamoylphosphate Synthetase 1 Deficiency Disease | Carbamoylphosphate Synthetase 1 Deficiency Disease - | Carbamoyl Phosphate Synthetase I Deficiency | Carbamoylphosphate Synthetase I Deficiency Disease | Carbamoyl Phosphate Synthetase I Deficiency Disease | Carbamoyl-Phosphate Synthetase I Deficiency Disease | Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To | Carbamyl Phosphate Synthetase 1 Deficiency Disease | Carbamyl-Phosphate Synthetase 1 Deficiency Disease | Carbamyl Phosphate Synthetase (CPS) Deficiency | Carbamyl Phosphate Synthetase Deficiency Disease | Carbamyl Phosphate Synthetase I Deficiency Disease | Carbamyl-Phosphate Synthetase I Deficiency Disease | CPS 1 Deficiencies | CPS 1 Deficiency | CPS I Deficiencies | CPS I Deficiency | Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Definition A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D020165
OMIM® ID 237300
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Carbamoyl-Phosphate Synthase I Deficiency Disease Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Carbamoyl-Phosphate Synthase I Deficiency Disease Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Carbamoyl-Phosphate Synthase I Deficiency Disease Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Carbamoyl-Phosphate Synthase I Deficiency Disease Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Carbamoyl-Phosphate Synthase I Deficiency Disease Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Carbamoyl-Phosphate Synthase I Deficiency Disease Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Mitochondrial Diseases Has associated chemicals Has associated genes Carbamoyl-Phosphate Synthase I Deficiency Disease Has associated chemicals Has associated genes

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