Intellectual performance of children with maple syrup urine disease

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Abstract
The intellectual performance of 22 children aged 3–16 years with maple syrup urine disease (MSUD) was assessed and compared to a group of early treated phenylketonuria (PKU) children and normal subjects matched by age, sex, nationality, and socio-economic status. All subjects were tested by one examiner only using the age related versions of the non-verbal Snijders-Oomen intelligence test. The mean IQ (±SD) score was 74±14 (range 50–103) in patients with MSUD, 101±12 (range 87–125) in early treated PKU patients, and 107±9 (range 90–122) in normal subjects. Intercorrelations indicated that length of time after birth that plasma leucine concentration remained >1 mmol/l and quality of long-term metabolic control have important influences on IQ.