The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency

Ryosuke Bo; Hiroyuki Awano; Kenji Yamada; Mayu Ooi; Yuichi Okata; Yuko Bitoh; Satoshi Mizobuchi; Kazumoto Iijima

doi:10.1016/j.ymgmr.2021.100760

The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency

Mol Genet Metab Rep. 2021 Apr 19:27:100760. doi: 10.1016/j.ymgmr.2021.100760. eCollection 2021 Jun.

Authors

Ryosuke Bo¹, Hiroyuki Awano¹, Kenji Yamada², Mayu Ooi³, Yuichi Okata⁴, Yuko Bitoh⁴, Satoshi Mizobuchi³, Kazumoto Iijima¹

Affiliations

¹ Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
² Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan.
³ Department of Anesthesia, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
⁴ Department of Pediatric Surgery, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.

Abstract

Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD, OMIM 201475) is a congenital fatty acid oxidation disorder. Individuals with VLCADD should avoid catabolic states, including strenuous exercise and long-term fasting; however, such conditions are required when undergoing surgery. The perioperative management of VLCADD in infants has rarely been reported and details regarding the transition of serum biomarkers reflecting catabolic status have not been disclosed. Herein, we present the perioperative clinical and biological data of cryptorchidism in a 1.5-year-old boy with VLCADD. The patient was diagnosed through newborn screening and his clinical course was very stable. Genetic testing of ACADVL revealed compound heterozygous variants c.506 T > C (p.Met169Thr) and c.606-609delC (p.L216*). The enzyme activity of the patient with VLCAD was only 20% compared to that of healthy control. Left orchiopexy for the pediatric cryptorchidism was planned and performed at 1 and a half year of age. Induction anesthesia involved thiopental, fentanyl and rocuronium. The glucose infusion rate was maintained above 6.6 mg/kg/min starting the day before surgery until the operation was completed. Anesthesia was maintained with sevoflurane at approximately 2%. The serum concentration of tetradecenoylcarnitine were stable during the operation, ranging between 0.08 and 0.19 μM (cutoff <0.2 μM), and never deviated from the reference range. Concentration of other serum biomarkers including free fatty acid, 3-OH-butyrate, and creatine kinase, remained similarly unchanged. In this report, we describe the uneventful perioperative management of unilateral orchiopexy for left cryptorchidism in a 1.5-year-old boy with VLCADD using sufficient glucose infusion and volatile anesthesia.

Keywords: 3-OHB, 3-hydroxybutyrate; CK, creatine kinase; FFA, free fatty acid; Fatty acid oxidation; NBS, newborn screening; Newborn screening; Perioperative management; Tetradecenoylcarnitine; VLCAD deficiency; VLCADD, very long-chain acyl-coenzyme A dehydrogenase deficiency; Volatile anesthetics.

Publication types

Case Reports