Pancreatitis in maple syrup urine disease - A rare and easily overseen complication

摘要

Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive disorder caused by deficiency of branched chain alpha ketoacid dehydrogenase complex (BCKD; EC 1.2.4.4) which is responsible for the second common step in the breakdown of the branched chain amino acids (BCAA) valine, leucine and isoleucine.