What is Maple Syrup Urine Disease?
Maple syrup urine disease or "MSUD" is an inherited metabolic disease that causes acidosis, central nervous system symptoms, and urine that may smell sweet like maple syrup. It is caused by the inability to metabolize the branched-chain amino acids leucine, isoleucine, and valine, and in its most severe form, MSUD causes excessive acid in the body fluids, seizures, lethargy, and coma, and possibly death. Even in the mildest form, infections can cause mental retardation and bouts of acidosis.
For a further understanding of MSUD and its effects on both child and family, please take a moment to view the AJS Foundation video.
Windows Media Player required to view video