Document Detail


Phenylketonuria in adulthood: a collaborative study.
MedLine Citation:
PMID:  12408183     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
R Koch; B Burton; G Hoganson; R Peterson; W Rhead; B Rouse; R Scott; J Wolff; A M Stern; F Guttler; M Nelson; F de la Cruz; J Coldwell; R Erbe; M T Geraghty; C Shear; J Thomas; C Azen
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Publication Detail:
Type:  Clinical Trial; Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  25     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2002 Sep 
Date Detail:
Created Date:  2002-10-31     Completed Date:  2003-03-25     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  333-46     Citation Subset:  IM    
Affiliation:
Children's Hospital Los Angeles, Department of Pediatrics, Keck School of Medicine, University of Southern California, 90027, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Brain Chemistry
Child
Continuity of Patient Care
Educational Status
Follow-Up Studies
Humans
Magnetic Resonance Imaging
Phenylalanine / administration & dosage,  analysis,  blood
Phenylalanine Hydroxylase / genetics
Phenylketonurias* / complications,  diagnosis,  diet therapy,  psychology
Regression Analysis
Social Class
Wechsler Scales
Grant Support
ID/Acronym/Agency:
M01 RR-43 CDMAS/RR/NCRR NIH HHS; N01-HD-2-3148/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
63-91-2/Phenylalanine; EC 1.14.16.1/Phenylalanine Hydroxylase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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