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).
Also Known As:
Deficiency, Holocarboxylase Synthetase; Deficiency, Multiple Carboxylase, Neonatal Form; Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency; Early-Onset Combined Carboxylase Deficiency; HLCS Deficiency; Infantile Multiple Carboxylase Deficiency; Multiple Carboxylase Deficiency, Early Onset; Deficiencies, HLCS; Deficiencies, Holocarboxylase Synthetase; Deficiency, HLCS; Early Onset Biotin Responsive Multiple Carboxylase Deficiency; Early Onset Combined Carboxylase Deficiency; HLCS Deficiencies; Holocarboxylase Synthetase Deficiencies; Carboxylase Deficiency, Multiple, Neonatal Form; Multiple Carboxylase Deficiency, Neonatal Form