Dramatic Clinical Improvement With Biotin Mega-Dose Therapy In A Neonate With Holocarboxylase Synthetase Deficiency

This case study documents the first reported instance of holocarboxylase synthetase deficiency in a neonate in Korea, who showed dramatic clinical improvement after receiving high-dose biotin therapy (10 mg/day). The therapy led to rapid normalization of lactic acid levels, resolution of metabolic acidosis and hyperammonemia, and improvements in skin and brain MRI findings. The patient achieved developmental milestones and maintained normal growth with continued biotin treatment, highlighting the effectiveness of biotin therapy and the importance of early genetic diagnosis. The study was ethically approved, with no conflicts of interest, and data are available upon request.