Intermittent neurological symptoms in a girl with a maple syrup urine disease (MSUD) variant.


Severe neurological symptoms, including intermittent ataxia, hallucinations and convulsions, associated with metabolic acidosis and branched-chain amino-acidemia occurred in a six-year-old girl with a variant form of maple syrup urine disease. The symptoms only appeared during periods of infection. Between these periods the girl was healthy and the… (More)


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