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Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Carbamoyl-Phosphate Synthase I Deficiency Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Carbamoyl-Phosphate Synthase I Deficiency Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Carbamoyl-Phosphate Synthase I Deficiency Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Carbamoyl-Phosphate Synthase I Deficiency Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Carbamoyl-Phosphate Synthase I Deficiency Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Urea Cycle Disorders, Inborn > Carbamoyl-Phosphate Synthase I Deficiency Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Urea Cycle Disorders, Inborn > Carbamoyl-Phosphate Synthase I Deficiency Disease

Terme préférentiel

Carbamoyl-Phosphate Synthase I Deficiency Disease  

Type

  • mesh:Descriptor

Définition

  • 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)

Concept générique

Concepts associés

Synonyme(s)

  • Carbamoyl-Phosphate Synthase 1 Deficiency Disease
  • 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 -
  • Carbamoyl-Phosphate Synthetase I Deficiency Disease
  • Carbamoylphosphate Synthetase I Deficiency Disease
  • Carbamyl-Phosphate Synthetase 1 Deficiency Disease
  • Carbamyl Phosphate Synthetase Deficiency Disease
  • Carbamyl-Phosphate Synthetase I Deficiency Disease

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-TLDXC9GS-8

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RDF/XML TURTLE JSON-LD Date de création 05/11/1999, dernière modification le 26/02/2016