Case Report Carnitine Deficiency and Pregnancy Anouk de Bruyn, 1 Yves Jacquemyn, 1 Kristof Kinget, 2 and François Eyskens 3,4 1 Department of Obstetrics and Gynaecology, Antwerp University Hospital UZA, 2650 Edegem, Belgium 2 Department of Obstetrics and Gynaecology, Klina Hospital, 2930 Brasschaat, Belgium 3 Department of Metabolic Disorders in Children, Antwerp University Hospital UZA, 2650 Edegem, Belgium 4 Center of Inherited Metabolic Diseases, Metabolic Lab PCMA, 2610 Wilrijk, Belgium Correspondence should be addressed to Anouk de Bruyn; anouk debruyn@hotmail.com Received 14 March 2015; Revised 5 May 2015; Accepted 17 May 2015 Academic Editor: Svein Rasmussen Copyright © 2015 Anouk de Bruyn et al. his is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. We present two cases of carnitine deiciency in pregnancy. In our irst case, systematic screening revealed L-carnitine deiciency in the irst born of an asymptomatic mother. In the course of her second pregnancy, maternal carnitine levels showed a deiciency as well. In a second case, a mother known with carnitine deiciency under supplementation was followed throughout her pregnancy. Both pregnancies had an uneventful outcome. Because carnitine deiciency can have serious complications, supplementation with carnitine is advised. his supplementation should be continued throughout pregnancy according to plasma concentrations. 1. Introduction Carnitine (-hydroxy-y-N-trimethylammonium butyrate) is necessary for the transport of long chain fatty acids across the inner mitochondrial membrane, where they are used as substrates for the beta-oxidation cycle. Beta-oxidation is the most important source of energy in case of exercise of low and mild intensity and during fasting. Levocarnitine is the biologically active form. Endogenous production of the compound from lysine and methionine is primarily located in the liver, kidneys, and brain. Exogenous supply is via red meat and milk products [1]. Carnitine deiciency can have multiple causes. One of them is a condition called systemic primary carnitine dei- ciency (SPCD). SPCD (OMIM 212140) is a rare autosomal recessive disorder, caused by homozygous or compound het- erozygous mutation in the SLC22A5 gene. As a consequence, there is a dysfunctional transporter, that is, the organic cation transporter novel 2. his transporter is located at the apical plasma membranes particularly in heart, muscle, and kidney and normally transfers carnitine intracellularly. he dysfunction leads to high renal loss of carnitine and lower concentrations of carnitine in blood and tissues. hus, lower concentrations of carnitine will be available for the transfer of long chain fatty acids [2, 3]. SPCD has many variations in its presentation, from asymptomatic over metabolic crises at young age (sudden infant death syndrome, episodes of hypoglycemia, and Reye-like syndrome) to progressive car- diomyopathy [4]. Carnitine can cross the placenta. Hence a low carnitine level of the neonate can relect both neonatal deiciency and maternal deiciency [5–7]. 2. Case Presentation Case 1. he irst patient delivered a healthy term girl ater an uneventful pregnancy. Blood results in the context of the Flemish neonatal screening program showed low free carnitine. Supplementation with L-carnitine was started (200 mg/day or 50 mg/kg body weight/day) for the baby. he mother did not agree to have a blood test herself and presented herself three years later, at the age of 29 years, to our prenatal unit at 7 weeks of gestational age. At that moment she agreed for a blood test. Results were as follows: free carnitine 6 mol (normal range 32–60 mol); total carnitine 7 mol (normal values 41–70 mol); acylcarnitine 1 mol (normal values 6–15 mol); acyl/total ratio 0.14 (normal range 0.12– 0.30). She was started on oral L-carnitine supplementation Hindawi Publishing Corporation Case Reports in Obstetrics and Gynecology Volume 2015, Article ID 101468, 4 pages http://dx.doi.org/10.1155/2015/101468