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

Preferred term

Multiple Carboxylase Deficiency  

Type

  • Topical Descriptor

Broader concept

Narrower concepts

Related concepts

Entry terms

  • Carboxylase Deficiencies, Combined
  • Carboxylase Deficiency, Combined
  • Carboxylase Deficiency, Multiple
  • Combined Carboxylase Deficiencies
  • Combined Carboxylase Deficiency
  • Deficiencies, Combined Carboxylase
  • Deficiency, Combined Carboxylase
  • Deficiency, Multiple Carboxylase

Scope note

  • A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.

History note

  • 87

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URI

http://www.yso.fi/onto/mesh/D009100

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