• Management of maple syrup urine disease in the peri-operative period

      McCarron, E; Mc Cormack, O; Howard, C; Cronin, T; McGowan, A; Healy, ML; O’Rourke, D; Crushell, E; N Ravi, N; Reynolds, JV (Irish Medical Journal (IMJ), 2013-10)
      Maple syrup urine disease (MSUD) has an incidence of 1:125,000 newborns in Ireland. Patients, when fasting, or in a catabolic state build up toxic metabolites leading to progressive neurological dysfunction. We describe the necessary peri-operative management of a patient with MSUD who developed symptomatic gallstones requiring a laparoscopic cholecystectomy.