Early Presentation of Very Long Chain Acyl-CoA Dehydrogenase Deficiency: Nursing Action Resulting in a Positive Outcome

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Abstract

A clinical case of very long chain fatty acid acyl-CoA dehydrogenase (VLCAD) deficiency with cardiac manifestation, is presented. A 2-day old newborn, delivered after a normal pregnancy, birth, and immediate post-natal period, was transported from an outside hospital (OSH) with episodic wide complex tachycardia. In this case, the newborn screen returned suggesting VLCAD deficiency, positively redirecting treatment. An overview of VLCAD, one category of inborn error of metabolism (IEM), is presented. Additionally, the importance of newborn screening, the role of genetic testing, and nursing implications to improve outcomes, will also be discussed.

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