Clinical phenotype | Age of onset | Severity | Acute metabolic decompensation | Response to thiamine |
Classic MSUD | Newborn | Moderate to severe | Yes (newborn period and with catabolic stress) | No |
Intermittent MSUD | Infancy to childhood | Severe | Yes (with catabolic stress) | No |
Intermediate MSUD | Infancy to childhood, adult (rare) | Mild to moderate | Rare | No |
Thiamine-responsive MSUD | Infancy to childhood | Moderate | Rare | In conjunction with dietary therapy |
E3-deficienct MSUD | Newborn | Moderate | Rare | No |
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