A metabolic myopathy with a frequently poor prognosis reported in Japan

Multiple acyl-CoA dehydrogenase (MADD) deficiency is responsible for a metabolic myopathy linked to three distinct genes: ETFA, ETFB and ETFDH. Japanese researchers compiled clinical and biological data from a cohort of 37 patients with MADD.

• The cohort was collected from 1997 to 2020, which accounts for its relative rarity.
• A mutation in the ETFDH p.Y507D gene was frequently found, suggesting the existence of a founder effect in the Japanese population.
• This disease, although treatable with riboflavin and carnitine, was lethal, with half of the 37 patients not reaching the age of three years due to the complications associated with this condition.

The authors report the existence of later-onset forms that are resistant to riboflavinopathy.

 

Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype. Yamada K, Osawa Y, Kobayashi H et al. Mol Genet Metab Rep. 2022 Nov 14;33:100940.