French specialists in metabolic diseases have sought to gain a better understanding of the severity and course of patients suffering from fatty acid oxidation disorder (FAOD), some of whom have muscular manifestations:
- 27 patients aged over 6 years with different forms of FAOD were included in this retrospective study,
- 10 with LCHAD deficiency, 6 with CPT2 deficiency, 7 with VLCAD deficiency and 4 with MADD deficiency,
- The ratio of cardiac output to oxygen consumption in the basal state and during exercise was used as a biomarker, as was the acylcarnitine profile,
- all correlated with a severity index.
This correlation was even more marked in CPT2 deficiency, before and after treatment with triheptanoin.
