Diseases

Biotinidase Deficiency

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

See Also

MeSH Record

Synonyms

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

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

2002

MeSH Record

Previous Indexing

  • Amidohydrolases/deficiency (1983-2001)

MeSH Hierarchy

Tree Numbers

  1. C16w.320w.565w.100.620w.100w
  2. C16w.320w.565w.202w.720w.100w
  3. C18.452w.648w.100.620w.100w
  4. C18.452w.648w.202w.720w.100w

AMA Style

References

  1. National Library of Medicine. Biotinidase Deficiency. Medical Subject Headings (MeSH). 2026. Unique ID D028921. http://id.nlm.nih.gov/mesh/2026/D028921
  2. Biotinidase Deficiency. In: Wikipedia. https://en.wikipedia.org/wiki/Biotinidase_deficiency
  3. Biotinidase Deficiency. In: Wikidata. https://www.wikidata.org/wiki/Q776026