Intellectual development in 12-year-old children treated for phenylketonuria

Article Abstract:

Phenylketonuria (PKU) is an inborn metabolic disorder caused by an absence or deficiency of the enzyme phenylalanine hydroxylase. Deficiency of this enzyme allows the toxic amino acid phenylalanine to accumulate in the brain. Early diagnosis and treatment of phenylketonuria can prevent mental retardation. Treatment consists of limiting dietary intake of phenylalanine beginning as soon as possible after birth. This diet may be discontinued at some time between the age of four and 10; however, several reports have indicated a decrease in IQ (intelligence test) in children who discontinue this diet. A study was undertaken of 95 12-year-old children treated for PKU in an attempt to evaluate their intelligence and achievement test scores. All children had been identified by newborn screening and began dietary therapy before four months of age. There were 23 children who maintained appropriately low blood levels of phenylalanine beyond the age of 10; 72 children had persistently elevated levels at ages ranging from 18 months to 10 years. A negative relationship was found between test scores and the age at the time of dietary restriction. There was a positive correlation between parent IQ scores and the age at which the children discontinued the dietary control. Children who maintained low phenylalanine levels beyond the age of 10 showed a test score deficiency only in arithmetic. The pattern of test scores indicates the best intellectual and academic achievement is obtained with early initiation of treatment and strict control of blood PHE levels. The data obtained from this analysis strongly support maintaining dietary restriction through adolescence. (Consumer Summary produced by Reliance Medical Information, Inc.)

Research, Prevention, Complications and side effects, Cognition, Mental retardation

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Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding

Article Abstract:

Doctors and midwives may want to screen pregnant women for phenylketonuria. Phenylketonuria is a disorder of phenylalanine metabolism. In a study of 414 women with phenylketonuria and their infants, six women had never been treated with a phenylalanine-restricted diet and were only diagnosed after they had an affected baby. Nine were diagnosed by prenatal screening. Many had normal intelligence, indicating that people with untreated phenylketonuria are not necessarily mentally retarded.

Usage, Diagnosis, Medical screening, Health screening

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