Postmortem recognition of fatty acid oxidation disorders.
With an appropriate protocol for collection, storage, and sample analysis, it should be possible to ensure correct diagnosis of disorders of fatty acid oxidation presenting to the pathologist. Appropriate counseling of affected families will lead to presymptomatic sibling diagnosis of these frequently treatable disorders, which, in turn, can prevent the catastrophic metabolic consequences of the disorders.
Bennett
M J
MJ
Division of Gastroenterology/Nutrition, Children's Hospital of Philadelphia, Pennsylvania 19104.
Hale
D E
DE
Coates
P M
PM
Stanley
C A
CA
D001344:Autopsy / Q000379:methods*; D001706:Biopsy; D001774:Blood Chemical Analysis; D004798:Enzymes / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D010084:Oxidation-Reduction; D012867:Skin / Q000473:pathology; D014556:Urine / Q000502:physiology; D014822:Vitreous Body / Q000378:metabolism
D004798:Enzymes; D005227:Fatty Acids