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

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

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

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 maternal administration of biotin (10 mg/day) from 33 weeks' gestation. After biotin administration, the fetal body weight increased and gestation was continued to full term. However, lactic acidemia and metabolic acidosis were observed after birth. To evaluate the effects of prenatal therapy, we collected serum samples and measured the acylcarnitine profiles using high-performance liquid chromatography electrospray ionization tandem mass spectrometry. At birth, levels of propionylcarnitine and 3-hydroxyisovalerylcarnitine had already increased. At 2 h after birth, these levels of acylcarnitines were further increased. At 3.5 h after the start of biotin, these chemical findings were slightly improved. In conclusion, we considered that prenatal biotin therapy at 10 mg/day may have been inadequate to avoid neonatal acidotic crisis in this case.

Original languageEnglish
Pages (from-to)775-778
Number of pages4
JournalBrain and Development
Volume31
Issue number10
DOIs
Publication statusPublished - 01-11-2009

Fingerprint

Holocarboxylase Synthetase Deficiency
Biotin
propionylcarnitine
Parturition
Pregnancy
Multiple Carboxylase Deficiency
Therapeutics
Inborn Errors Metabolism
Cerebral Ventricles
Lactic Acidosis
Fetal Weight
Fetal Growth Retardation
Electrospray Ionization Mass Spectrometry
Tandem Mass Spectrometry
Acidosis
Fetus
High Pressure Liquid Chromatography
Mothers
Newborn Infant

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Yokoi, Kyoko ; Ito, Tetsuya ; Maeda, Yasuhiro ; Nakajima, Yoko ; Kurono, Yukihisa ; Sugiyama, Naruji ; Togari, Hajime. / A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy. In: Brain and Development. 2009 ; Vol. 31, No. 10. pp. 775-778.
@article{3067c9d47a354b53b80b263deb605ea8,
title = "A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy",
abstract = "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 maternal administration of biotin (10 mg/day) from 33 weeks' gestation. After biotin administration, the fetal body weight increased and gestation was continued to full term. However, lactic acidemia and metabolic acidosis were observed after birth. To evaluate the effects of prenatal therapy, we collected serum samples and measured the acylcarnitine profiles using high-performance liquid chromatography electrospray ionization tandem mass spectrometry. At birth, levels of propionylcarnitine and 3-hydroxyisovalerylcarnitine had already increased. At 2 h after birth, these levels of acylcarnitines were further increased. At 3.5 h after the start of biotin, these chemical findings were slightly improved. In conclusion, we considered that prenatal biotin therapy at 10 mg/day may have been inadequate to avoid neonatal acidotic crisis in this case.",
author = "Kyoko Yokoi and Tetsuya Ito and Yasuhiro Maeda and Yoko Nakajima and Yukihisa Kurono and Naruji Sugiyama and Hajime Togari",
year = "2009",
month = "11",
day = "1",
doi = "10.1016/j.braindev.2008.12.016",
language = "English",
volume = "31",
pages = "775--778",
journal = "Brain and Development",
issn = "0387-7604",
publisher = "Elsevier",
number = "10",

}

A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy. / Yokoi, Kyoko; Ito, Tetsuya; Maeda, Yasuhiro; Nakajima, Yoko; Kurono, Yukihisa; Sugiyama, Naruji; Togari, Hajime.

In: Brain and Development, Vol. 31, No. 10, 01.11.2009, p. 775-778.

Research output: Contribution to journalArticle

TY - JOUR

T1 - A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy

AU - Yokoi, Kyoko

AU - Ito, Tetsuya

AU - Maeda, Yasuhiro

AU - Nakajima, Yoko

AU - Kurono, Yukihisa

AU - Sugiyama, Naruji

AU - Togari, Hajime

PY - 2009/11/1

Y1 - 2009/11/1

N2 - 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 maternal administration of biotin (10 mg/day) from 33 weeks' gestation. After biotin administration, the fetal body weight increased and gestation was continued to full term. However, lactic acidemia and metabolic acidosis were observed after birth. To evaluate the effects of prenatal therapy, we collected serum samples and measured the acylcarnitine profiles using high-performance liquid chromatography electrospray ionization tandem mass spectrometry. At birth, levels of propionylcarnitine and 3-hydroxyisovalerylcarnitine had already increased. At 2 h after birth, these levels of acylcarnitines were further increased. At 3.5 h after the start of biotin, these chemical findings were slightly improved. In conclusion, we considered that prenatal biotin therapy at 10 mg/day may have been inadequate to avoid neonatal acidotic crisis in this case.

AB - 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 maternal administration of biotin (10 mg/day) from 33 weeks' gestation. After biotin administration, the fetal body weight increased and gestation was continued to full term. However, lactic acidemia and metabolic acidosis were observed after birth. To evaluate the effects of prenatal therapy, we collected serum samples and measured the acylcarnitine profiles using high-performance liquid chromatography electrospray ionization tandem mass spectrometry. At birth, levels of propionylcarnitine and 3-hydroxyisovalerylcarnitine had already increased. At 2 h after birth, these levels of acylcarnitines were further increased. At 3.5 h after the start of biotin, these chemical findings were slightly improved. In conclusion, we considered that prenatal biotin therapy at 10 mg/day may have been inadequate to avoid neonatal acidotic crisis in this case.

UR - http://www.scopus.com/inward/record.url?scp=70350169096&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=70350169096&partnerID=8YFLogxK

U2 - 10.1016/j.braindev.2008.12.016

DO - 10.1016/j.braindev.2008.12.016

M3 - Article

C2 - 19201116

AN - SCOPUS:70350169096

VL - 31

SP - 775

EP - 778

JO - Brain and Development

JF - Brain and Development

SN - 0387-7604

IS - 10

ER -