Hope for rare metabolic disorder: new drug targets fatigue in PDH deficiency

This study tests whether a drug called glycerol phenylbutyrate (RAVICTI®) can reduce fatigue and improve daily life for people with pyruvate dehydrogenase (PDH) deficiency, a rare genetic condition that affects energy production. About 15 children and young adults (ages 2 to 25) will take the drug for 6 months while continuing their usual treatments like vitamin B1 and a special diet. Researchers will measure changes in fatigue, overall function, and quality of life.