Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby

Kenji Yamada, Keiichi Matsubara, Yuko Matsubara, Asami Watanabe, Sanae Kawakami, Fumihiro Ochi, Kozue Kuwabara, Yuichi Mushimoto, Hironori Kobayashi, Yuki Hasegawa, Seiji Fukuda, Seiji Yamaguchi, Takeshi Taketani

研究成果: Contribution to journalArticle査読

4 被引用数 (Scopus)


Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive mitochondrial fatty acid oxidation disorder that manifests in three clinical forms: (a) severe, (b) milder, and (c) myopathic. Patients with the myopathic form present intermittent muscular symptoms such as myalgia, muscle weakness, and rhabdomyolysis during adolescence or adulthood. Here, the clinical symptoms and serum creatine kinase (CK) levels of a pregnant 31-year-old woman with the myopathic form of VLCAD deficiency were reduced during pregnancy. Clinical symptoms rarely appeared during pregnancy, although she had sometimes suffered from muscular symptoms before pregnancy. When ritodrine was administered for threatened premature labor at 35 weeks of gestation, her CK level was elevated to over 3900 IU/L. She delivered a full-term baby via cesarean section but suffered from muscle weakness with elevated CK levels soon after delivery. It has been reported that an unaffected placenta and fetus can improve maternal β-oxidation during pregnancy. However, in our case, the baby was also affected by VLCAD deficiency. These suggest that the clinical symptoms of a woman with VLCAD deficiency might be reduced during pregnancy even if the fetus is affected with VLCAD deficiency.

ジャーナルJIMD Reports
出版ステータス出版済み - 6 1 2019

All Science Journal Classification (ASJC) codes

  • 内科学
  • 内分泌学、糖尿病および代謝内科学
  • 生化学、遺伝学、分子生物学(その他)


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