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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Ornithine Carbamoyltransferase Deficiency Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Ornithine Carbamoyltransferase Deficiency Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Ornithine Carbamoyltransferase Deficiency Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Ornithine Carbamoyltransferase Deficiency Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Urea Cycle Disorders, Inborn > Ornithine Carbamoyltransferase Deficiency Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Urea Cycle Disorders, Inborn > Ornithine Carbamoyltransferase Deficiency Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Urea Cycle Disorders, Inborn > Ornithine Carbamoyltransferase Deficiency Disease

Terme préférentiel

Ornithine Carbamoyltransferase Deficiency Disease  

Type

  • mesh:Descriptor

Définition

  • An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)

Concept générique

Concepts associés

Synonyme(s)

  • Deficiency Disease, Ornithine Carbamoyltransferase
  • Deficiency Disease, Ornithine Transcarbamylase
  • Ornithine Carbamoyltransferase Deficiency
  • Ornithine Transcarbamylase Deficiency
  • Ornithine Transcarbamylase Deficiency Disease
  • Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
  • OTC Deficiency

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-QPXST43W-0

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RDF/XML TURTLE JSON-LD Date de création 03/11/1999, dernière modification le 08/07/2013