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

Preferred term

Biotinidase Deficiency  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • BTD Deficiencies
  • BTD Deficiency
  • Carboxylase Deficiency, Multiple, Late-Onset
  • Deficiencies, BTD
  • Deficiency, Biotinidase
  • Deficiency, BTD
  • Deficiency, Multiple Carboxylase, Late-Onset
  • Late Onset Biotin Responsive Multiple Carboxylase Deficiency
  • Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
  • Late Onset Multiple Carboxylase Deficiency
  • Late-Onset Multiple Carboxylase Deficiency
  • Multiple Carboxylase Deficiency, Late Onset
  • Multiple Carboxylase Deficiency, Late-Onset

Scope note

  • The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.

History note

  • 2002

In other languages

URI

http://www.yso.fi/onto/mesh/D028921

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