Multiple acyl-CoA dehydrogenase (MADD) deficiency is a rare inherited disease affecting fatty acid oxidation. It can result, in its late onset form, by a muscle deficit. This muscle lipidosis is particularly frequent in China where a mutation with a founder effect has been identified in the ETFDH gene. Researchers from the Chinese province of Shandong report the clinical and genetic data of 110 patients followed for MADD deficiency:
- abnormalities in the muscle biopsy and the drop in the level of circulating riboflavin (vitamin B2) make it possible to differentiate them from other muscle lipidoses,
- the variant of the ETFDH gene is mainly found,
- patients respond positively to vitamin B2 supplementation.
