Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters

Background Metabolic treatment in glutaric aciduria type I (GA-I) including a low lysine diet with lysine-free, tryptophan-reduced amino acid supplements (AAS), carnitine supplementation and early start of emergency treatment during putatively threatening episodes of intermittent febrile illness dramatically improves the outcome and thus has been recommended by an international guideline group (Kolker et al, J Inherit Metab Dis 30:5–22, 2007). However, possible affection of linear growth, weight gain and biochemical follow-up monitoring has not been studied systematically.