Skip to main content

Medical Subject Headings

Search from vocabulary

Content language

Concept information

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

Preferred term

Holocarboxylase Synthetase Deficiency  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

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

Scope note

  • 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).

History note

  • 2002

In other languages

URI

http://www.yso.fi/onto/mesh/D028922

Download this concept:

RDF/XML TURTLE JSON-LD Created 7/25/01, last modified 7/8/13