Diseases

Multiple Carboxylase Deficiency

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

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Classification

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Synonyms

11 entry terms
  • Carboxylase Deficiency, Combined
  • Carboxylase Deficiency, Multiple
  • Combined Carboxylase Deficiency
  • Deficiency, Combined Carboxylase
  • Deficiency, Multiple Carboxylase
  • Carboxylase Deficiencies, Combined
  • Carboxylase Deficiencies, Multiple
  • Combined Carboxylase Deficiencies
  • Deficiencies, Combined Carboxylase
  • Deficiencies, Multiple Carboxylase
  • Multiple Carboxylase Deficiencies

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

87

MeSH Record

Previous Indexing

  • specific enzyme (1966-1974)
  • specific enzyme/deficiency (1975-1986)

MeSH Hierarchy

Tree Numbers

AMA Style

References

  1. National Library of Medicine. Multiple Carboxylase Deficiency. Medical Subject Headings (MeSH). 2026. Unique ID D009100. http://id.nlm.nih.gov/mesh/2026/D009100
  2. Multiple Carboxylase Deficiency. In: Wikipedia. https://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency
  3. Multiple Carboxylase Deficiency. In: Wikidata. https://www.wikidata.org/wiki/Q6934914