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Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Urea Cycle Disorders, Inborn
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Urea Cycle Disorders, Inborn

Terme préférentiel

Urea Cycle Disorders, Inborn  

Type

  • mesh:Descriptor

Définition

  • Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.

Concept générique

Concepts spécifiques

Synonyme(s)

  • Inborn Urea Cycle Disorder
  • Urea Cycle Disorders

Qualificatif(s) autorisé(s)

Traductions

  • Anomalies congénitales du cycle de l'urée

    français

  • Anomalies du cycle de l'urée
  • Erreurs innées du métabolisme du cycle de l'urée
  • Trouble congénital du cycle de l'urée
  • Troubles congénitaux du cycle de l'urée
  • Troubles du cycle de l'urée

URI

http://data.loterre.fr/ark:/67375/JVR-H79L77V9-9

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RDF/XML TURTLE JSON-LD Date de création 06/07/2009