Dramatic Clinical Improvement With Biotin Mega-Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency.

Seon Woo KimHyeon Joo LeeNaye ChoiEe-Kyung KimJung Min Ko

Published in: Molecular genetics & genomic medicine (2024)

Our case highlights the significance of early genetic testing in neonates with unexplained metabolic disorders to enable timely diagnosis and therapy initiation. Biotin therapy has demonstrated remarkable efficacy in improving the clinical condition of patients with HLCS deficiency, leading to favorable outcomes.

Keyphrases

metabolic syndrome
adipose tissue
preterm infants
low birth weight
insulin resistance
weight loss