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

ABSTRACT Introduction Holocarboxylase synthetase deficiency (HLCS deficiency, OMIM #253270) is an exceedingly rare metabolic disorder resulting in multiple carboxylase deficiencies owing to impaired biotin cycle. Clinical manifestations include severe metabolic acidosis, hyperammonemia, tachypnea, s...

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Autori principali:	Seon Woo Kim, Hyeon Joo Lee, Naye Choi, Ee‐Kyung Kim, Jung Min Ko
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2024-08-01
Serie:	Molecular Genetics & Genomic Medicine
Soggetti:	biotin HLCS holocarboxylase synthetase deficiency lactic acidosis metabolic acidosis
Accesso online:	https://doi.org/10.1002/mgg3.70002
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