Holocarboxylase Synthetase Deficiency
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).
Year introduced: 2002
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Subheadings:
Tree 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
MeSH Unique ID: D028922
Entry Terms:
- Deficiencies, Holocarboxylase Synthetase
- Holocarboxylase Synthetase Deficiencies
- Multiple Carboxylase Deficiency, Early Onset
- Carboxylase Deficiency, Multiple, Neonatal Form
- Deficiency, Holocarboxylase Synthetase
- 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
- Deficiency, Multiple Carboxylase, Neonatal Form
- HLCS Deficiency
- Deficiencies, HLCS
- Deficiency, HLCS
- HLCS Deficiencies
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