A correct diagnosis requires the experience of someone trained in metabolic diseases. At times the peculiar maple syrup smell in the urine or sweat can occur in older, healthy children or adults who are non-symptomatic. The reason for this is unknown. Treatment Initial treatment of a neonate with MSUD requires a prompt reduction in the levels of the BCAAs. High levels of leucine are very toxic and can lead to brain injury resulting in mental retardation, neurological difficulties in walking and speech, seizures, or death.
Dialysis is no longer the preferred method of reducing high levels of BCAAs.
Using IV solutions, developed specifically for this purpose, allows the excess leucine, valine and isoleucine to be utilized for protein synthesis in the body, thus rapidly decreasing the BCAA levels. Sometimes insulin or a similar agent is also given to speed up the utilization of the excess BCAAs. Adding additional isoleucine and valine helps prevent deficiencies of these two BCAAs since these levels drop more rapidly than leucine. Levels too low in isoleucine and valine can cause severe rashes on the infant and prevent leucine from dropping to an acceptable level. Long-term treatment of MSUD involves a carefully controlled diet which strictly limits dietary protein in order to prevent the accumulation of BCAAs in the blood.