TY - CHAP M1 - Book, Section TI - Maple Syrup Urine Disease (MSUD) A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is an inherited inborn error of metabolism caused by a complex enzymatic deficiency of branched-chain α-ketoacid dehydrogenase leading to the production of urine and sweat that smell like maple syrup. Clinical features include lethargy, hypotonia, seizures, bulging fontanelles, and progressive neurologic deterioration. Severe metabolic acidosis is the cause of death in the newborn. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164077714 ER -