Holocarboxylase Synthetase Deficiency
"Holocarboxylase Synthetase Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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).
Descriptor ID |
D028922
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MeSH Number(s) |
C16.320.565.100.620.380 C16.320.565.202.720.380 C18.452.648.100.620.380 C18.452.648.202.720.380
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Concept/Terms |
Holocarboxylase Synthetase Deficiency- Holocarboxylase Synthetase Deficiency
- Deficiencies, Holocarboxylase Synthetase
- Holocarboxylase Synthetase Deficiencies
- Deficiency, Holocarboxylase Synthetase
- Deficiency, Multiple Carboxylase, Neonatal Form
- HLCS Deficiency
- Deficiencies, HLCS
- Deficiency, HLCS
- HLCS Deficiencies
- Multiple Carboxylase Deficiency, Neonatal Form
- Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
- Early Onset Biotin Responsive Multiple Carboxylase Deficiency
- Early-Onset Combined Carboxylase Deficiency
- Early Onset Combined Carboxylase Deficiency
- Infantile Multiple Carboxylase Deficiency
- Carboxylase Deficiency, Multiple, Neonatal Form
- Multiple Carboxylase Deficiency, Early Onset
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Below are MeSH descriptors whose meaning is more general than "Holocarboxylase Synthetase Deficiency".
Below are MeSH descriptors whose meaning is more specific than "Holocarboxylase Synthetase Deficiency".
This graph shows the total number of publications written about "Holocarboxylase Synthetase Deficiency" by people in this website by year, and whether "Holocarboxylase Synthetase Deficiency" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Holocarboxylase Synthetase Deficiency" by people in Profiles.
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Cadieux-Dion M, Gannon J, Newell B, Nopper AJ, Jenkins J, Heese B, Saunders C. Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings. Pediatr Dermatol. 2021 May; 38(3):655-658.
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