DLD and maple syrup urine disease: MSUD is inherited in an autosomal recessive pattern, and despite the absence of a defined genotype–phenotype correlation, on the bases of age at onset, severity of symptoms, response to thiamine supplementation, biochemical findings, and the gene locus ultimately affected [9], there are presently five known clinical phenotypes: classic, intermediate, intermittent, thiamin-responsive, and dihydrolipoamide dehydrogenase (E3)-deficient form.