RESUMO
Fatty acid oxidation (FAO) disorders are frequently reported as the cause of sudden and unexpected death, but their postmortem identification remains difficult. Over a period of 5 years, the authors have identified 44 cases representing five FAO disorders and 19 additional cases without a diagnosis of a specific defect. Among the two groups, 13 patients died in the neonatal period, 10 in the FAO group, and three from the undetermined defect group. This outcome was consistently associated with exclusive breast feeding and presumably poor caloric intake. The diagnosis of FAO disorder in these cases was based on the analysis of postmortem liver and bile. In postmortem liver, informative findings are microvesicular steatosis, elevated fatty acid concentrations, glucose depletion, and low carnitine concentration. Bile carnitine analysis and acylcarnitine profiling have expanded significantly the effectiveness of the initial protocol and could lead, based on preliminary observations, to better identification of patients who may have been missed or left undetermined by the analysis of liver only. If an autopsy is not performed, informative findings can still be obtained by analysis of blood spots collected for newborn screenings and by biochemical testing of parents and asymptomatic siblings.
