Abstract
Forty-three adults with classical phenylketonuria were identifed by neonatal screening and treated with a phenylalanine (Phe) restricted diet. Nineteen have remained on dietary treatment with varying levels of blood Phe control and 24 have discontinued the diet at an average age of 7.8 years. Follow up at an average age of 22 years revealed that the cohort remaining on dietary treatment have achieved substantially better social and academic achievement than the 24 who discontinued dietary treatment. Another group of 19 adults who were not diagnosed until an average age of 2.5 years have also been evaluated after an average of 22 years on a Phe restricted diet. This report is based upon Wechsler Adult Intelligence Revised Test scores, attendance at college, employment and marital status.
Similar content being viewed by others
Abbreviations
- Phe :
-
phenylalanine
- PKU :
-
phenylketonuria
References
Guthrie R, Susi A (1963) A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32:338
Holtzman NA, Kronmal RA, Doornick W van, Azen C, Koch R (1986) Effect of age at loss of dietary control on intellectual performance and behavior in children with phenylketonuria. N Engl J Med 314:593–598
British Guidelines (1993) Medical Research Council Working Party of Phenylketonuria Recommendations on the Dietary Management of Phenylketonuria. Arch Dis Child
Hanley WB, Linsao L, Davidson W, Moes CAF (1970) Malnutrition with early treatment of phenylketonuria. Pediatr Res 4:318–327
Azen C, Koch R, Friedman EG, et al (1991) Intellectual development in 12-year-old children treated for phenylketonuria. Am J Dis Child 145:35–39
Thompson AJ, Smith I, Brenton D, Youl BD, Rylance G, Davidson DC, et al (1990) Neurological deterioration in young adults with phenylketonuria. Lancet 336:602–605
Villasana D, Butler IJ, Williams JC, Roongta SM (1989) Neurological deterioration in adult phenylketonuria. J Inherited Metab Dis 12:451–457
Thompson AJ, Smith I, Kendall BE, Youl BD, Brenton S (1991) MRI changes in early treated patients with phenylketonuria. Lancet 337:1224
Waitzman NJ, Romano PS, Scheffler RM (1994) Estimates of the economic costs of birth defects. Inquiry 31:188–205
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Koch, R., Azen, C., Friedman, E.G. et al. Care of the adult with phenylketonuria. Eur J Pediatr 155 (Suppl 1), S90–S92 (1996). https://doi.org/10.1007/PL00014260
Issue Date:
DOI: https://doi.org/10.1007/PL00014260