Rett Syndrome

A case is reported of a 17-year-old girl with Rett syndrome whose condition improved while using l-carnitine (50 mg/kg/day). Upon cessation, she relapsed whereas reestablishing the treatment saw improvements after 1 week. More specifically, alertness increased, she started reaching for objects with both hands, and answered simple questions with one or two words. Interestingly, serum carnitine levels (free and total) were within normal limits before and after l-carnitine treatment (Plioplys & Kasnicka 1993). An 8-week randomised, placebo-controlled, double-blind crossover trial of l-carnitine has since been completed detecting improvements on the Hand Apraxia Scale and in the subjects' general wellbeing (Ellaway et al 1999).

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