Fatty acid transport and mitochondrial oxidation disorders.
Inborn errors of fatty acid transport and mitochondrial oxidation (FATMO) represent a group of metabolic disorders that has brought forward many interesting developments in recent years, particularly the discovery of several new defects and the recognition of an ever-increasing spectrum of clinical phenotypes. The impact of newborn and postmortem screening in preventing morbidity and mortality is now recognized beyond specialized academic centers and has emerged as a staple of general pediatric practice. This review focuses on the biochemical basis and clinical manifestations of these disorders, particularly maternal complications of pregnancy, the increasingly complex process of laboratory evaluation, and a synopsis of two recently discovered defects: long-chain fatty acid transport/binding defect and medium- and short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency. Although our understanding of these new disorders is still incomplete, they nevertheless appear to have a more than casual relationship with acute liver failure in pediatric patients.
Rinaldo
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Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA. rinaldo@mayo.edu
D001692:Biological Transport; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism*; D017114:Liver Failure, Acute / Q000209:etiology; D008930:Mitochondria, Liver / Q000378:metabolism*; D011247:Pregnancy; D011248:Pregnancy Complications
D005227:Fatty Acids