Introduction: Medium-chain Acyl-CoA Dehydrogenase (MCAD) deficiency is an autosomal recessive disorder defined by the inability of the body to convert medium chain fatty acids into acetyl-CoA via oxidative catabolism (1). Patients undergoing fasting are at high risk of hypoketotic hypoglycemia, rhabdomyolysis, cardiac arrest, encephalopathy, respiratory arrest, and sudden death (2). This syndrome significantly increases risks to the fasting laboring parturient with increased metabolic demands.
Case Report: A 31yo G1P0 Caucasian female with MCAD deficiency and GDMA2 (on insulin) was admitted at 39 weeks’ gestation for induction of labor. She was diagnosed on newborn screen and followed by endocrinology throughout her life, including during pregnancy. She was referred to the High-Risk Obstetric Anesthesiology Clinic for multidisciplinary peripartum planning. During early labor she was continued on her home medication of L-carnitine 1000mg BID and normal diet. Her blood glucose was checked every 4 hours by finger stick (FSBG) and corrected with a mild insulin sliding scale. Epidural was offered, but the patient preferred nitrous oxide for pain management. Oxytocin infusion was initiated 35 hours after admission at which point she was switched to clear liquids, and a dextrose 5% lactated ringers infusion. FSBG were checked every hour with mild insulin sliding scale. Her glucose ranged from 83 to 171. She used nitrous oxide for labor analgesia during active labor and had a spontaneous vaginal delivery. A healthy baby boy was delivered with APGARS of 8 and 9 at 1 and 5 minutes respectively. No neonatal hypo- or hyperglycemia was observed and 24-hour glucose levels were between 47-79 mg/dl.
Discussion: MCAD deficiency presents significant risk to the laboring parturient. There has only been one prior case reported in the literature of a nulliparous parturient with MCAD deficiency that received spinal-epidural anesthesia, fasted, and was induced for one hour prior to delivery (3). Our patient benefited from multidisciplinary planning and peripartum management given the longer time in labor. Laboring patients with MCAD deficiency require close glucose monitoring and dextrose infusion when fasting, in vomitus or active labor.
References:
1. Roe, C. R., and J. Ding. "Schriver CR, Beaudet AL, Sly WS, Valle D (eds) Mitochondrial fatty acid oxidation disorders." Metabolic and molecular bases of inherited disease, 7th edn. MacGraw-Hill Inc., New York 1394 (1995).
2. Lang, T.F. Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). J Inherit Metab Dis (2009) 32: 675.
3. Wang S Y, Kannan S, Shay D, Segal S, Datta S, Tsen L. Anesthetic considerations for a patient with compound heterozygous medium-chain Acyl-CoA dehydrogenase deficiency. Anesthesia and analgesia (2002) 94 (6): 1595-7.
