Back to Journals » Research and Reports in Neonatology » Volume 6

Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives

Authors Soler-Alfonso C, Bennett M, Ficicioglu C

Received 3 June 2015

Accepted for publication 16 September 2015

Published 18 January 2016 Volume 2016:6 Pages 1—10


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 5

Editor who approved publication: Dr Robert Schelonka

Claudia Soler-Alfonso,1 Michael J Bennett,2 Can Ficicioglu1

1Department of Pediatrics, Section of Metabolic Disease, 2Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

Abstract: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder associated with fatty acid oxidation. The disorder is characterized by inability to generate sufficient energy from fatty acid metabolism during periods of catabolic stress caused by intercurrent illness or prolonged fasting. The metabolic consequences are severe and include hypoketotic hypoglycemia leading to a Reye-like hepatic encephalopathy syndrome and sudden death. If individuals are detected before a life-threatening episode, the complications of MCAD deficiency are preventable. Newborn metabolic screening enables the early detection of MCAD deficiency in many countries worldwide. The metabolic marker for MCAD deficiency “octanoylcarnitine” (C8) can be detected with a high degree of sensitivity in the newborns by tandem mass spectrometry. The 985A>G (K329E) mutation accounts for the majority of disease alleles, and approximately 47%–80% of MCAD patients are homozygotes for this mutation. Newborns homozygous for the 985A>G mutation have higher octanoylcarnitine levels than those who are heterozygous for 985A>G mutation or possess other genotypes. Time of sampling after birth and prematurity may affect the octanoylcarnitine levels in MCAD-deficient newborns. Tandem mass spectrometry newborn blood spot screening for MCAD deficiency is accurate and effective, and reduces morbidity and mortality in affected children.

Keywords: MCAD, newborn screening, C8, octanoylcarnitine, tandem mass spectrometry, sudden death in childhood

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF]  View Full Text [HTML][Machine readable]