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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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
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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.
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History Note
87
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Previous Indexing
- specific enzyme (1966-1974)
- specific enzyme/deficiency (1975-1986)
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AMA Style
References
- National Library of Medicine. Multiple Carboxylase Deficiency. Medical Subject Headings (MeSH). 2026. Unique ID D009100. http://id.nlm.nih.gov/mesh/2026/D009100
- Multiple Carboxylase Deficiency. In: Wikipedia. https://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency
- Multiple Carboxylase Deficiency. In: Wikidata. https://www.wikidata.org/wiki/Q6934914