Dramatic Clinical Improvement With Biotin Mega-Dose Therapy In A Neonate With Holocarboxylase Synthetase Deficiency
August 2024
in “
Molecular Genetics & Genomic Medicine
”
New to Biotin? There is a guide in the encyclopedia. Read the guide → Studysummary In this case study, an 8-day-old neonate with holocarboxylase synthetase deficiency showed dramatic improvement in lactic acidosis and overall clinical condition following biotin mega-dose therapy, highlighting the importance of early genetic testing and timely treatment in such metabolic disorders.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
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.
