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... > 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

Preferred term

Holocarboxylase Synthetase Deficiency  

Type

  • mesh:Descriptor

Definition

  • 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).

Broader concept

Related concepts

Entry terms

  • 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

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In other languages

URI

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

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