The disease is so named because urine from affected people smells like maple syrup. In the most severe form, MSUD causes severe acidosis during the first week of life. This is characterized by progressively poorer feeding, vomiting , seizures , lethargy , and finally coma .
Untreated infants die in the first few weeks of life.
MSUD also occurs in an intermittent form and a mild form. Even the mildest form, MSUD results in retardation and bouts of acidosis precipitated by stresses such as illness. The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Inc. Any duplication or distribution of the information contained herein is strictly prohibited.