Holocarboxylase Synthetase Deficiency |
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| Deficiency, Holocarboxylase Synthetase; Deficiency, Multiple Carboxylase, Neonatal Form; Deficiencies, Holocarboxylase Synthetase; Holocarboxylase Synthetase Deficiencies | |
| 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). | |