Abstract
In 1954, John Menkes described four siblings who died in the first three months of life from a neurometabolic disorder and whose urine had the odor of maple syrup. Decades after the recognition of this entity, and despite the advent of newborn screening and advancements in medical management, the classical form of maple syrup urine disease (MSUD) remains one of the most unpredictable and sinister inborn errors of metabolism (IEM). Mortality during metabolic crisis is estimated to be as high as 25%, and malignant cerebral edema is the most common cause of death. 1 Strauss K.A. Carson V.J. Soltys K. et al. Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): treatment, biomarkers, and outcomes. Mol Genet Metab. 2020; 129: 193-206 Crossref PubMed Scopus (44) Google Scholar
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