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This case report discusses three cases of long chain fatty acid oxidation defects in children: importance of detection and treatment options
Abstract:
BACKGROUND: Mitochondrial beta oxidation plays a major role in energy production. Long chain fatty acid oxidation defects include deficiency of the trifunctional protein (rare) or more commonly defects of the long chain 3-hydroxy acyl-CoA dehydrogenase enzyme (LCHAD). These long chain defects have variable presentations, they may present in the neonate or infant with sudden death, more...
International Classification:
Other - long chain fatty acid oxidation defects
Categories:
long chain fatty acid oxidation defects
Geography:
Republic of Ireland
Ir J Med Sci,
Vol: 176 Page: 189-92 September 2007
B. Hayes; B. Lynch; M. O'Keefe; A. A. Monavari; E. P. Treacy
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