Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency

Miyu Meguro, Yoichi Wada, Yurina Kisou, Chihiro Sugawara, Yoshihiro Akimoto, Shigeo Kure

Research output: Contribution to journalArticlepeer-review


Holocarboxylase synthetase deficiency (HSD), an autosomal recessive biotin cycle disorder, is caused by holocarboxylase synthetase (HLCS) genetic variants, resulting in multiple carboxylase deficiency. Catabolic stress can induce metabolic crises in patients with HSD. Although pharmacological doses of biotin have improved HLCS enzyme activity and HSD prognosis, the prolonged life expectancy has gradually highlighted novel issues in adult patients with HSD. To the best of our knowledge, there is only one report on a case of HSD during pregnancy and childbirth, and the metabolic profile was not well defined. In this report, we present the history and metabolic profile of a woman with HSD who had an uncomplicated pregnancy and childbirth. A high pharmacological dose of biotin, 100 mg/day, had no effect on the fetus. Even during the emergency cesarean section, the detailed metabolic assessments revealed no significant laboratory findings, such as ketolactic acidosis, hyperammonemia, and remarkable acylcarnitine change. This report suggests that a woman with HSD who regularly takes biotin can conceive and give birth safely, and biotin doses of 100 mg/day may not influence the growth and development of the fetus. Further research and case studies on pregnant women with HSD are required to determine an acceptable maximum dosage of biotin for human fetuses.

Original languageEnglish
Article number100923
JournalMolecular Genetics and Metabolism Reports
Publication statusPublished - 2022 Dec


  • Biotin
  • Holocarboxylase synthetase deficiency
  • Pregnant women with inborn errors of metabolism

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology


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