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

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

^*Corresponding author af dette arbejde

Publikation: Bidrag til bog/antologi/rapport › Bidrag til bog/antologi › Forskning › peer review

6 Citationer (Scopus)

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.

Originalsprog	Engelsk
Titel	JIMD Reports
Antal sider	4
Forlag	Springer
Publikationsdato	2015
Sider	67-70
DOI	https://doi.org/10.1007/8904_2015_428
Status	Udgivet - 2015

Navn	JIMD Reports
Vol/bind	23
ISSN	2192-8304

Bibliografisk note

Publisher Copyright:
© SSIEM and Springer-Verlag Berlin Heidelberg 2015.

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Citationsformater

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title = "Abnormal newborn screening in a healthy infant of a mother with undiagnosed medium-chain Acyl-CoA dehydrogenase deficiency",

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.",

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author = "Lise Aksglaede and Mette Christensen and Olesen, {Jess H.} and Morten Duno and Olsen, {Rikke K.J.} and Andresen, {Brage S.} and Hougaard, {David M.} and Lund, {Allan M.}",

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AU - Aksglaede, Lise

AU - Christensen, Mette

AU - Olesen, Jess H.

AU - Duno, Morten

AU - Olsen, Rikke K.J.

AU - Andresen, Brage S.

AU - Hougaard, David M.

AU - Lund, Allan M.

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

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KW - Holocarboxylase synthetase

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KW - Plasma free carnitine

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