Muscular glycogenosis
RSS feedLow-carbohydrate ketogenic diet and McArdle’s disease: results of an international survey
An international survey of 183 people with McArdle’s disease in 18 countries, including France, was conducted to gather their experiences with the low-carbohydrate, high-fat ketogenic diet. The results show that: one third of the participants have tried this diet, among them, nearly 90% reported positive effects on McArdle’s disease symptoms (exercise intolerance, muscle pain and … [Read more]
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 … [Read more]
