There are a few ways to diagnose infants with maple syrup urine disease. Tandem mass spectrometry uses a single blood sample to screen for many disorders, including MSUD. When advanced screening is not available, doctors may need to rely on symptomatic findings and test for keto acids through urine and blood analysis. However, infants with intermittent MSUD may have normal results, and that's where family history and molecular genetic testing would indicate the mutations. The earlier the diagnosis, the more prepared parents and doctors will be.

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