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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 > Carbohydrate 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
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Multiple Carboxylase Deficiency

Preferred term

Multiple Carboxylase Deficiency  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

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Related concepts

Entry terms

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

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URI

http://data.loterre.fr/ark:/67375/JVR-R0XRC3VX-L

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RDF/XML TURTLE JSON-LD Created 4/18/86, last modified 7/5/06