Condition
Holocarboxylase Synthetase Deficiency
General Healthcare
Overview
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).
This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.
Quick facts about Holocarboxylase Synthetase Deficiency
- Topic type
- Condition
- Category
- General Healthcare
- MeSH classification
- C16.320.565.100.620.380|C16.320.565.202.720.380|C18.452.648.100.620.380|C18.452.648.202.720.380
Preparing for an appointment about Holocarboxylase Synthetase Deficiency
If you are speaking with a healthcare professional about Holocarboxylase Synthetase Deficiency, it can help to prepare a few details in advance.
- Write down your symptoms and when they started.
- Bring details of any medicines, supplements or previous treatments.
- Ask what tests or assessments may be needed.
- Ask what treatment or management options may be suitable.
- Ask when you should seek urgent medical help or follow-up care.
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Source: Medical Subject Headings (MeSH), produced by the U.S. National Library of Medicine. EuroCareFinder is not endorsed by the National Library of Medicine. MeSH version: 2026.