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

Clincial Genetics, Department of

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.

Original language	English
Journal	JIMD Reports
Volume	23
Pages (from-to)	67-70
ISSN	2192-8304
DOIs	https://doi.org/10.1007/8904_2015_428
Publication status	Published - 13 Mar 2015

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@article{25d3439859764a4db18fb9e613c27008,

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.",

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}",

year = "2015",

month = mar,

day = "13",

doi = "10.1007/8904_2015_428",

language = "English",

volume = "23",

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journal = "JIMD Reports",

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publisher = "Springer Berlin",

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TY - JOUR

T1 - Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

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 - 2015/3/13

Y1 - 2015/3/13

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.

U2 - 10.1007/8904_2015_428

DO - 10.1007/8904_2015_428

M3 - Journal article

C2 - 25763512

VL - 23

SP - 67

EP - 70

JO - JIMD Reports

JF - JIMD Reports

SN - 2192-8304

ER -

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

Abstract

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