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

Lise Aksglaede, Mette Christensen, Jes Olesen, Morten Dunø, Rikke Katrine Jentoft Olsen, Brage Storstein Andresen, David M Hougaard, Allan Meldgaard Lund

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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.

OriginalsprogEngelsk
TidsskriftJIMD Reports
Vol/bind23
Sider (fra-til)67-70
ISSN2192-8304
DOI
StatusUdgivet - 2015

Fingeraftryk

Dyk ned i forskningsemnerne om 'Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency'. Sammen danner de et unikt fingeraftryk.

Citationsformater