Variant maple syrup urine disease (MSUD)—The entire spectrum

Summary Background : In the rare inborn autosomal recessive disorder maple syrup urine disease (MSUD) the accumulation of the branched‐chain amino acids (BCAAs) and their metabolic products results in acute and chronic brain dysfunction. About 20% of the patients suffer from non‐classic variant forms of MSUD of different clinical severity. Aim : Up to now variant cases have mostly been published as individual case reports; the aim of this study...