This rare form of the condition often improves with large doses of thiamine, or vitamin B-1. The initial reaction of the disease often occurs when the child experiences stress, illness, or an unusual increase in protein. Individuals have significant enzyme activity - about 8 to 15 percent of normal activity. Symptoms usually don’t appear until a child is between 1 and 2 years of age. This form doesn’t interfere with normal physical and intellectual growth and development. People with this type of MSUD have a higher level of enzyme activity than classic MSUD - about 3 to 8 percent of normal activity. Onset is usually triggered when the infant’s body begins to process protein from feedings. Symptoms are present in newborns within a few days of birth. A person with this form has little, if any, enzyme activity - about 2 percent or less of normal activity. This is the most common and severe form of the condition. They differ by their degree of enzyme activity, severity, and the age when the disease appears.
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