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

This case study describes a neonate with holocarboxylase synthetase deficiency, a rare metabolic disorder, who showed dramatic clinical improvement after receiving biotin mega-dose therapy. The 8-day-old female presented with severe lactic acidosis and other symptoms, but after genetic testing identified specific HLCS variants, biotin therapy (10 mg/day) was initiated. Remarkable improvement was observed the day after treatment began, allowing for the discontinuation of mechanical ventilation within 6 days. The patient continued to exhibit normal growth and development up to 18 months of age. This case underscores the importance of early genetic testing and timely biotin therapy in managing HLCS deficiency effectively.