title: Phenylketonuria in adulthood: a collaborative study.
abstract: During 1967-1983, the Maternal and Child Health Division of the Public Health Services funded a collaborative study of 211 newborn infants identified on newborn screening as having phenylketonuria (PKU). Subsequently, financial support was provided by the National Institute of Child Health and Human Development (NICHD). The infants were treated with a phenylalanine (Phe)-restricted diet to age 6 years and then randomized either to continue the diet or to discontinue dietary treatment altogether. One hundred and twenty-five of the 211 children were then followed until 10 years of age. In 1998, NICHD scheduled a Consensus Development Conference on Phenylketonuria and initiated a study to follow up the participants from the original Collaborative Study to evaluate their present medical, nutritional, psychological, and socioeconomic status. Fourteen of the original clinics (1967-1983) participated in the Follow-up Study effort. Each clinic director was provided with a list of PKU subjects who had completed the original study (1967-1983), and was asked to evaluate as many as possible using a uniform protocol and data collection forms. In a subset of cases, magnetic resonance imaging and spectroscopy (MRI/MRS) were performed to study brain Phe concentrations. The medical evaluations revealed that the subjects who maintained a phenylalanine-restricted diet reported fewer problems than the diet discontinuers, who had an increased rate of eczema, asthma, mental disorders, headache, hyperactivity and hypoactivity. Psychological data showed that lower intellectual and achievement test scores were associated with dietary discontinuation and with higher childhood and adult blood Phe concentrations. Abnormal MRI results were associated with higher brain Phe concentrations. Early dietary discontinuation for subjects with PKU is associated with poorer outcomes not only in intellectual ability, but also in achievement test scores and increased rates of medical and behavioural problems.
authors.affiliation: Children's Hospital Los Angeles, Department of Pediatrics, Keck School of Medicine, University of Southern California, 90027, USA.
authors.forename: R
authors.initials: R
authors.lastname: Koch
authors.forename: B
authors.initials: B
authors.lastname: Burton
authors.forename: G
authors.initials: G
authors.lastname: Hoganson
authors.forename: R
authors.initials: R
authors.lastname: Peterson
authors.forename: W
authors.initials: W
authors.lastname: Rhead
authors.forename: B
authors.initials: B
authors.lastname: Rouse
authors.forename: R
authors.initials: R
authors.lastname: Scott
authors.forename: J
authors.initials: J
authors.lastname: Wolff
authors.forename: A M
authors.initials: AM
authors.lastname: Stern
authors.forename: F
authors.initials: F
authors.lastname: Guttler
authors.forename: M
authors.initials: M
authors.lastname: Nelson
authors.forename: F
authors.initials: F
authors.lastname: de la Cruz
authors.forename: J
authors.initials: J
authors.lastname: Coldwell
authors.forename: R
authors.initials: R
authors.lastname: Erbe
authors.forename: M T
authors.initials: MT
authors.lastname: Geraghty
authors.forename: C
authors.initials: C
authors.lastname: Shear
authors.forename: J
authors.initials: J
authors.lastname: Thomas
authors.forename: C
authors.initials: C
authors.lastname: Azen
mesh_terms: D000328:Adult; D001923:Brain Chemistry; D002648:Child; D003266:Continuity of Patient Care; D004522:Educational Status; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D010649:Phenylalanine / Q000008:administration & dosage / Q000032:analysis / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D010661:Phenylketonurias / Q000150:complications / Q000175:diagnosis / Q000178:diet therapy / Q000523:psychology; D012044:Regression Analysis; D012923:Social Class; D014888:Wechsler Scales
chemical_list: D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase