What Is Maple Syrup Urine Disease?
4. What Is Classic MSUD?
Classic maple syrup urine disease originates in newborn infants and presents with symptoms nearly immediately, typically within the first three days of life. The earliest symptoms are increased irritability, inability to eat properly and general lethargy. Symptoms become more evident over a short period of time and can develop into neurological concerns. Convulsive movements and atypical movements are common.
Classic MSUD is considered the most severe form of the disorder. If swift treatment does not occur, the infant can become more convulsive and eventually comatose. Advanced symptoms are neurological in nature and can lead to full respiratory failure as well as death within the first few weeks. Even with treatment, it is not uncommon for individuals with classic MSUD to have intellectual and behavioral disabilities.
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