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.
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