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Concept information

... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Multiple Carboxylase Deficiency > Biotinidase Deficiency
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Multiple Carboxylase Deficiency > Biotinidase Deficiency
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Multiple Carboxylase Deficiency > Biotinidase Deficiency
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Multiple Carboxylase Deficiency > Biotinidase Deficiency

Terme préférentiel

Biotinidase Deficiency  

Type

  • mesh:Descriptor

Définition

  • The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.

Concept générique

Concepts associés

Synonyme(s)

  • BTD Deficiency
  • Carboxylase Deficiency, Multiple, Late-Onset
  • Deficiency, Biotinidase
  • Deficiency, Multiple Carboxylase, Late-Onset
  • Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
  • Late-Onset Multiple Carboxylase Deficiency
  • Multiple Carboxylase Deficiency, Late-Onset

Qualificatif(s) autorisé(s)

Traductions

  • Déficit en biotinidase

    français

  • Déficit multiple en carboxylases à début tardif
  • Déficit multiple en carboxylases par déficit en biotinidase

URI

http://data.loterre.fr/ark:/67375/JVR-H0HBZC1X-2

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RDF/XML TURTLE JSON-LD Date de création 03/08/2001, dernière modification le 08/07/2013