Intermittent Maple Syrup Urine Disease Presenting With Chronic Demyelinating Polyneuropathy: A Genetically Confirmed DBT-Related Case

Background and aims: Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism caused by deficiency of the branched-chain α-keto acid dehydrogenase complex. Neurological manifestations predominantly involve the central nervous system, whereas peripheral nervous system involvement has been rarely reported.