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Concept information

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

Terme préférentiel

Argininosuccinic Aciduria  

Type

  • mesh:Descriptor

Définition

  • Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.

Concept générique

Concepts associés

Synonyme(s)

  • Arginino Succinase Deficiency
  • Argininosuccinase Deficiency
  • Argininosuccinate Acidemia
  • Argininosuccinate Lyase Deficiency
  • Argininosuccinic Acidemia
  • Argininosuccinic Acid Lyase Deficiency
  • Argininosuccinicaciduria
  • Argininosuccinyl-Coa Lyase Deficiency
  • Arginosuccinase Deficiency
  • ASA Deficiency
  • Asauria
  • ASL Deficiency
  • Inborn Error of Urea Synthesis, Arginino Succinic Type
  • Urea Cycle Disorder, Arginino Succinase Type

Qualificatif(s) autorisé(s)

Traductions

  • Acidurie arginosuccinique

    français

  • Acidurie argino-succinique
  • Amino-acidurie argino-succinique
  • Aminoacidurie arginosuccinique
  • Déficit en acide arginosuccinique synthétase
  • Déficit en argino-succinate lyase
  • Déficit en arginosuccinase
  • Déficit en arginosuccinate lyase
  • Déficit en ASA

URI

http://data.loterre.fr/ark:/67375/JVR-WSQS7R4C-J

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RDF/XML TURTLE JSON-LD Date de création 06/07/2009, dernière modification le 08/07/2013