Fatty Acid oxidation defects.
Fatty acid oxidation defects (FAODs) are a group of inborn errors of metabolism that carry a risk for morbidity and mortality. Successful management of these conditions involves early diagnosis, proper management of clinical situations that predisposes to metabolic crisis as well as adequate treatment of a metabolic crisis. The advent of tandem mass spectrometry based newborn screening has reduced the morbidity and mortality in some FAODs. This article discusses how to recognise FAODs and how to manage them.
Goh
Denise L M
DL
Department of Paediatrics, National University of Singapore, National University Hospital, 5 Lower Kent Ridge Road, Singapore 119074. paegohlm@nus.edu.sg
D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D015997:Neonatal Screening; D010084:Oxidation-Reduction; D053719:Tandem Mass Spectrometry
D005227:Fatty Acids