Diagnostics of MSUD
Maple Syrup Urine Disease usually occurs during the infancy stage of a person's life. Doctors scan a newborn for an absent enzyme that deals with certain protein. If this enzyme is absent, the person must be very cautious of their protein intake. Too much or too little protein can lead to severe illness or even death. The amount of daily protein depends on the person. Blood samples are taken from patients suffering from the disease about once per week. The blood samples are sent to dietitians and metabolic doctors. These doctors analyze the disease and calculate the amount and type of protein that the patient needs to consume daily.