A case report of a pregnancy complicated by very long chain acyl CoA dehydrogenase deficiency（myopathic form）

Abstract

 Very long-chain acyl CoA dehydrogenase（VLCAD）deficiency is a congenital abnormality in which mitochondrial fatty acid metabolism is altered. Patients present with myalgia, muscle weakness and rhabdomyolysis in hyper-catabolic states, such as prolonged fasting and intense exercise. There are few reports of VLCAD deficiency in pregnancy, and its management is unclear. In this report, we describe the management of a patient with VLCAD deficiency（myopathic form）during pregnancy. The patient was a 27-year-old, primigravida woman with a history of rhabdomyolysis following appendectomy at the age of 25 years. In early pregnancy, she presented with hyperemesis gravidarum that was successfully treated with administration of glucose-containing infusions. At 39 weeks and 4 days of gestation, the patient went into labor and admitted. She received intravenous glucose（5% solution）continuously from the time of admission until 3 days after the spontaneous vaginal delivery. Although she had a mildly elevated creatine kinase level on the day of delivery, she did not present with myalgia, muscle weakness, or rhabdomyolysis. It was, thus, suggested that timely glucose infusion may have prevented worsening of her symptoms.