Disorders of fatty acid transport and mitochondrial oxidation: challenges and dilemmas of metabolic evaluation

Genetics in Medicine : Official Journal of the American College of Medical Genetics
P Rinaldo, D Matern

Abstract

Inborn errors of fatty acid transport and mitochondrial oxidation (FATMO) have drawn considerable attention in recent years for the rapid pace of discovery of new defects and an ever-increasing spectrum of clinical phenotypes. Several of these disorders are not detected by conventional biochemical investigations, even when a patient is symptomatic with fasting intolerance or functional failure of fatty acid dependent tissue(s). In our view, today's major challenges are the inclusion of FATMO disorders in newborn screening programs and the investigation of the role played by individual disorders in maternal complications of pregnancy, sudden and unexpected death in early life, and pediatric acute/fulminant liver failure. Dilemmas are found in the debate over the limitations, if any, to be imposed on the expansion of newborn screening using tandem mass spectrometry, in the provision of prenatal diagnosis for otherwise treatable disorders, and in the diagnostic workup of "unclassified" cases.

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Citations

Nov 15, 2011·Forensic Science, Medicine, and Pathology·Brad RandallHenry F Krous
Feb 5, 2002·Annual Review of Physiology·Piero RinaldoMichael J Bennett
Mar 26, 2011·Journal of Aging Research·Gregory R Wagner, R Mark Payne
Nov 21, 2009·Seminars in Fetal & Neonatal Medicine·R Scott Rector, Jamal A Ibdah
Aug 24, 2005·Seminars in Perinatology·Margretta R Seashore, Carl J Seashore
Jun 13, 2015·Chinese Medical Journal·Qi-Lin Wang, Shang-Jing Guo
Mar 19, 2004·The Journal of Perinatal & Neonatal Nursing·Sandra A Banta-Wright, Robert D Steiner

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