RT Book, Section A1 Hay, Jr, William W. A1 Levin, Myron J. A1 Deterding, Robin R. A1 Abzug, Mark J. SR Print(0) ID 1145456999 T1 Maple Syrup Urine Disease (Branched-Chain Ketoaciduria) T2 Quick Medical Diagnosis & Treatment Pediatrics YR 2017 FD 2017 PB McGraw-Hill Education PP New York, NY SN 9781264257614 LK accesspediatrics.mhmedical.com/content.aspx?aid=1145456999 RD 2024/03/28 AB Typical presentation is infantile encephalopathyDue to deficiency of the enzyme that catalyzes the oxidative decarboxylation of the branched-chain keto acid derivatives of leucine, isoleucine, and valineAccumulated keto acids of leucine and isoleucine cause the characteristic sweet odorOnly leucine and its corresponding keto acid have been implicated in causing central nervous system (CNS) dysfunctionMany variants of this disorder have been described, including mild, intermittent, and thiamine-dependent formsAll are autosomal recessive traits