Maple Sugar Urine Disease (MSUD)

An autosomal (from both parents) inherited metabolic disorder which causes amino acid to accumulate in the blood, with toxic effects.  The infant’s urine smells of burnt maple sugar.  The child is lethargic, refuses to eat, and has convulsions.   MSUD is most common among Mennonites, affecting 1 in 760 births in that group.  Treatment is by restricting diet to avoid foods with the amino acids.