Clinical phenotypes of maple syrup urine disease

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

MSUD: maple syrup urine disease.

Graphic 131686 Version 1.0

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