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Article

A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy.

Brain & development - 1 Nov 2009

Yokoi Kyoko, Ito Tetsuya, Maeda Yasuhiro, Nakajima Yoko, Kurono Yukihisa, Sugiyama Naruji, Togari Hajime

Abstract excerpt

Holocarboxylase synthetase (HCS) deficiency is an inborn error of biotin metabolism, leading to a multiple carboxylases deficiency. As the affected fetus sometimes presents with enlargement of the cerebral ventricles and intrauterine growth retardation (IUGR), prenatal administration of biotin has been attempted in some pregnancies. We present herein the case of a Japanese neonate with HCS deficiency who received...

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Identifiers

PMID: 19201116
DOI: 10.1016/j.braindev.2008.12.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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