One should always remember to consider IEM's as a cause for suddent unexpected
death - particularly the fatty oxidation
It is estimated that at least 5% of SIDS are due to fatty oxidation disorders
Screening is recommended for patients with any of the following risk
- fatty infiltration of the liver
- unexplained cerebral edema
- "Reye's Syndrome"
- myopathy, family hx of sudden death
- a recent history of lethargy, vomiting, fasting, or hypoglycemia prior to
Urine for organic acids may detect high levels of metabolites. Diagnosis is
confirmed on studies done on tissue obtained from
It is important to consider this diagnosis as siblings may be affected, and
prenatal diagnosis is possible.
Boles RG, Buck EA, Blitzer MG et al: Retrospective biochemical screening of
fatty acid oxidation disorders in postmortem
liver of 418 cases of sudden unexpected death in the first year of life. J
Bennett MJ, Powell S: Metabolic disease and sudden, unexpected death in infancy.
Hum Pathol 1994;25:742-6.
Cederbaum SD: SIDS and disorders of fatty acid oxidation: Where do we go from
here? J Pediatr 1998;913-914.
Mark A. Hostetler, MD
Depts of Emergency Medicine and Pediatrics
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