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. Diagnosis is made clinically based on the peculiar ma-ple syrup odor or sugar burnt of the urine, encephalop-athy, increased levels of branched-chain amino acids in the plasma and urine, and the presence of α-hydroxyacid and branched-chain α-ketoacids in urine. The presence of plasma L-alloisoleucine and urinary α-hydroxyisovalerate are pathognomonic for MSUD

Contribution of the diffusion-weighted MRI in the diagnosis and follow-up of encephalopathy caused by maple syrup urine disease in a full-term newborn