Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency
作者： Lise Aksglaede , Mette Christensen , Jess H. Olesen , Morten Duno , Rikke K. J. Olsen
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摘要: A neonate with low blood free carnitine level on newborn tandem mass spectrometry screening was evaluated for possible transporter defect (CTD). The plasma concentration of marginally reduced, and the concentrations acylcarnitines (including C6, C8, C10:1) were normal confirmatory tests. Organic acids in urine normal. In addition, none frequent Faroese SLC22A5 mutations (p.N32S, c.825-52G>A) which are common Danish population identified. Evaluation mother showed low-normal carnitine, but highly elevated medium-chain (C6, consistent acyl-CoA dehydrogenase deficiency (MCADD). diagnosis confirmed by finding homozygous presence c.985A>G mutation ACADM.
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