![]() ![]() ![]() Most infants with MSUD are initially identified through newborn screening programs, then diagnosed with additional testing that may include: Testing and diagnosis of maple syrup urine disease Symptoms of thiamine-responsive MSUD are similar to intermediate MSUD and rarely occur in the first year of life. The fourth type, thiamine-responsive MSUD, responds to treatment with vitamin B1 (thiamine), which plays a role in enzyme processing. However, these children may experience symptoms of MSUD during periods of increased energy demands on the body, i.e. Children with intermediate MSUD also display the characteristic odor of maple syrup in their sweat, urine and earwax.Ĭhildren with Intermittent MSUD typically have normal growth and intellectual development, and most can eat normal levels of protein in their diet. Like it’s classic form, intermediate MSUD initially produces nonspecific symptoms including feeding problems, lethargy and poor growth, which may worsen to include seizures, brain damage, coma and life-threatening complications. Most children with intermediate MSUD are diagnosed between 5 months and 7 years old. Intermediate MSUD differs from the classic form in that these individuals typically have a higher level of residual enzyme activity and a later onset of symptoms.
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