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
|
| 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
|
| Concept/Terms |
Holocarboxylase Synthetase Deficiency- Holocarboxylase Synthetase Deficiency
- Deficiencies, Holocarboxylase Synthetase
- Holocarboxylase Synthetase Deficiencies
- Deficiency, Multiple Carboxylase, Neonatal Form
- Carboxylase Deficiency, Multiple, Neonatal Form
- Multiple Carboxylase Deficiency, Neonatal Form
- Deficiency, Holocarboxylase Synthetase
- Multiple Carboxylase Deficiency, Early Onset
|
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