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