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May 1970

Normal Mental Development in Treated Phenylketonuria: Report of Ten Cases

Author Affiliations

From the department of pediatrics (Dr. Lonsdale), and dietetics (Miss Foust), Cleveland Clinic Foundation, Cleveland.

Am J Dis Child. 1970;119(5):440-446. doi:10.1001/archpedi.1970.02100050442010

This report concerns experience obtained in the management of ten patients with hyperphenylalaninemia detected by the newborn screening program in Ohio. Nine of them were treated with a diet. Emphasis is placed on the first year of treatment and the danger of serum phenylalanine concentrations (SPC) in the physiological range. Clinical measurements of height, weight, and head circumference are sensitive indicators for phenylalanine starvation and, when related to the SPC, clearly indicate the rapidly increasing needs of the individual child during the first half of the year. As the need decreases, the SPC begins to rise, and the dietary allowance of phenylalanine diminishes. A diagnosis of hyperphenylalaninemia places emotional pressures on the parents which may influence their relationship with the child and create problems in assessment of his mental development.