Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Lise Aksglaede; Mette Christensen; Jess H Olesen; Morten Duno; Rikke K J Olsen; Brage S Andresen; David M Hougaard; Allan M Lund

doi:10.1007/8904_2015_428

Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

JIMD Rep. 2015:23:67-70. doi: 10.1007/8904_2015_428. Epub 2015 Mar 13.

Authors

Lise Aksglaede¹, Mette Christensen, Jess H Olesen, Morten Duno, Rikke K J Olsen, Brage S Andresen, David M Hougaard, Allan M Lund

Affiliation

¹ Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark, [email protected].

Abstract

A neonate with low blood free carnitine level on newborn tandem mass spectrometry screening was evaluated for possible carnitine transporter defect (CTD). The plasma concentration of free carnitine was marginally reduced, and the concentrations of acylcarnitines (including C6, C8, and C10:1) were normal on confirmatory tests. Organic acids in urine were normal. In addition, none of the frequent Faroese SLC22A5 mutations (p.N32S, c.825-52G>A) which are common in the Danish population were identified. Evaluation of the mother showed low-normal free carnitine, but highly elevated medium-chain acylcarnitines (C6, C8, and C10:1) consistent with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). The diagnosis was confirmed by the finding of homozygous presence of the c.985A>G mutation in ACADM.