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Keyword - Maple syrup urine disease (KW-0466)

Definition

Protein which, if defective, causes maple syrup urine disease, an autosomal recessive disorder characterized by mental and physical retardation, feeding problems and a maple syrup odour to the urine.

Category

Disease

Graphical

Maple syrup urine diseaseDisease
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Main funding by: National Institutes of Health

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