Analysis of retrospective data from 44 adults with fatty acid beta-oxidation deficiency followed up in six French centres of reference for rare neuromuscular or metabolic diseases showed that :
- fourteen had carnitine palmitoyl transferase 2 (CPT2) deficiency, nine had multiple acyl-CoA (MAD) deficiency, 13 had long-chain fatty acid dehydrogenase (VLCAD) deficiency, 3 had long-chain 3-hydoxyacyl-CoA dehydrogenase (LCHAD) deficiency, 5 had short-chain acyl-CoA dehydrogenase (SCAD) deficiency ;
- the initial symptoms were muscular (rhabdomyolysis, muscle weakness, exercise intolerance) in 68% of cases, metabolic (non-ketotic hypoglycaemia, severe asthenia, vomiting, encephalopathy, acidosis) in 16% of cases and mixed in 16% of cases;
- The average age of onset was 15 years, and the time to diagnosis ranged from 0 to 58 years;
- the first symptoms were most often metabolic when they occurred early (0.5 to 5 years) and more muscular when they occurred later (5 to 30 years);
- after an average follow-up of 10 years, 33% of patients were asymptomatic, 56% continued to show signs after exercise and 16% had moderate permanent muscle weakness;
- the frequency of rhabdomyolysis episodes decreased after diagnosis in 64% of cases.
- At the end of the article, the authors offer recommendations for treatment (L-carnitine, riboflavin, triheptanoin, fibrates) and diet (oil containing medium-chain triglycerides, low-fat diet, high-carbohydrate diet) based on their own experience and the literature.
