Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years Experience.

ABSTRACT:

Background

The treatment of long-chain mitochondrial β-oxidation disorders (LC-FOD) with a low fat-high carbohydrate diet, a diet rich in medium-even-chain triglycerides (MCT), or a combination of both has been associated with high morbidity and mortality for decades. The pathological tableau appears to be caused by energy deficiency resulting from reduced availability of citric acid cycle (CAC) intermediates required for optimal oxidation of acetyl-CoA. This hypothesis was investigated by diet therapy with carnitine and anaplerotic triheptanoin (TH).

Methods

Fifty-two documented LC-FOD patients were studied in this investigation (age range: birth to 51 years). Safety monitoring included serial quantitative measurements of routine blood chemistries, blood levels of carnitine

SUBMITTER: Roe CR 

PROVIDER: S-EPMC4712637 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature