Triheptanoin and long chain fatty acid oxidation disorders

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Roe and Brunengraber recently reported outcomes in a large cohort of individuals with long chain fatty acid oxidation disorders (Molecular Genetics and Metabolism, 2015; 116(4):260-268). They compared therapy with MCT oil and low fat-high carbohydrate diet versus diet therapy+carnitine+trihepatanoin. The outcomes were quite striking: average frequency of serious clinical complications was approximately 60% with diet therapy alone compared to 10% with diet therapy+carnitine+triheptanoin.  Even more strikingly, mortality decreased from 65%  to 3.8%.

The therapy with triheptanoin and carnitine is aimed at “refilling” the anapleurotic deficit of the TCA cycle in long chain fatty acid disorders, and this reasoned approach drastically improves outcome.

Hilary Vernon, MD PhD

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