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Concept information

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

Terme préférentiel

Citrullinemia  

Type

  • mesh:Descriptor

Définition

  • A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)

Concept générique

Concepts associés

Synonyme(s)

  • Argininosuccinate Synthase Deficiency Disease
  • Argininosuccinate Synthetase Deficiency
  • Argininosuccinic Acid Synthase Deficiency Disease
  • Argininosuccinic Acid Synthetase Deficiency
  • Argininosuccinic Acid Synthetase Deficiency Disease
  • ASS Deficiency
  • Citrullinuria
  • Deficiency Disease, Argininosuccinate Synthase
  • Deficiency Disease, Argininosuccinic Acid Synthase

Qualificatif(s) autorisé(s)

Traductions

  • Citrullinémie

    français

  • Déficit en argininosuccinate synthase
  • Déficit en argininosuccinate synthétase

URI

http://data.loterre.fr/ark:/67375/JVR-N94FJG70-H

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RDF/XML TURTLE JSON-LD Date de création 03/11/1999, dernière modification le 27/05/2020