What Is Maple Syrup Urine Disease?
3. How Is MSUD Diagnosed?
Maple syrup urine disease can be detected in newborns through the routine newborn screening process. Since symptoms in newborns can become evident within the first few days of life, a positive screen means treatment can begin before symptoms worsen. Some symptoms can occur immediately that indicate a possible MSUD diagnosis. Infants who are lethargic, irritable and eating poorly may have the condition, though these symptoms can also be signs of other conditions.
There are several types of MSUD, so a diagnosis for either a child or adult will fall under one of four general categories. The category determines what types of treatment are available and gives the physician an overall idea of the severity of the disorder. Patients are categorized into classic, intermediate, intermittent or thiamine-response MSUD. If the diagnosis cannot be placed into one of these categories, the patient will be diagnosed with unknown origin or unclassified MSUD.
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