Structured Summary
Abstract
The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase).
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Synonyms
16 entry terms
- Carboxylase Deficiency, Multiple, Neonatal Form
- Deficiency, Holocarboxylase Synthetase
- Deficiency, Multiple Carboxylase, Neonatal Form
- Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
- Early-Onset Combined Carboxylase Deficiency
- HLCS Deficiency
- Infantile Multiple Carboxylase Deficiency
- Multiple Carboxylase Deficiency, Early Onset
- Multiple Carboxylase Deficiency, Neonatal Form
- Deficiencies, HLCS
- Deficiencies, Holocarboxylase Synthetase
- Deficiency, HLCS
- Early Onset Biotin Responsive Multiple Carboxylase Deficiency
- Early Onset Combined Carboxylase Deficiency
- HLCS Deficiencies
- Holocarboxylase Synthetase 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
2002
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References
- National Library of Medicine. Holocarboxylase Synthetase Deficiency. Medical Subject Headings (MeSH). 2026. Unique ID D028922. http://id.nlm.nih.gov/mesh/2026/D028922
- Holocarboxylase Synthetase Deficiency. In: Wikipedia. https://en.wikipedia.org/wiki/Holocarboxylase_synthetase_deficiency
- Holocarboxylase Synthetase Deficiency. In: Wikidata. https://www.wikidata.org/wiki/Q5883885