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

Terme préférentiel

Holocarboxylase Synthetase Deficiency  

Type

  • mesh:Descriptor

Définition

  • The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase).

Concept générique

Concepts associés

Synonyme(s)

  • Carboxylase Deficiency, Multiple, Neonatal Form
  • Deficiency, Holocarboxylase Synthetase
  • Deficiency, Multiple Carboxylase, Neonatal Form
  • Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
  • Early-Onset Combined Carboxylase Deficiency
  • HLCS Deficiency
  • Infantile Multiple Carboxylase Deficiency
  • Multiple Carboxylase Deficiency, Early Onset
  • Multiple Carboxylase Deficiency, Neonatal Form

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-FVHPPX8S-T

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RDF/XML TURTLE JSON-LD Date de création 25/07/2001, dernière modification le 08/07/2013