Phenylketonuria in adulthood: A collaborative study

Journal of Inherited Metabolic Disease - 2002
Richard Koch1, Barbara K. Burton2, George Hoganson3, Raymond Peterson4, William J. Rhead5, Bobbye Rouse6, Robert Haney Scott7, Jon A. Wolff8, A. M. Stern1, F. Güttler9, Marvin D. Nelson1, Felix de la Cruz10, James G. Coldwell11, Richard W. Erbe12, Michael T. Geraghty13, C.L. Shear14, Janet A. Thomas15, Colleen Azen1
1Children's Hospital Los Angeles, Division of Medical Genetics, Department of Pediatrics, Keck School of Medicine, University of Southern California, and the Department of Radiology, Los Angeles, California
2Children's Memorial Medical Center, Chicago, Illinois
3Department of Pediatrics, University of Illinois at Chicago, Chicago, Illinois
4San Diego Regional Center, San Diego, California
5Division of Medical Genetics, University of Iowa, Iowa City, Iowa
6Children's Hospital, University of Texas Medical Branch, Galveston, Texas
7Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington
8Waisman Center on Mental Retardation and Human Development, University of Wisconsin, Madison, Wisconsin, USA
9John F. Kennedy Institute, Department of Inherited Metabolic Disease, University of Copenhagen, Glostrup, Denmark
10National Institute of Child Health and Human Development, Bethesda, Maryland
11Children's Medical Center, Tulsa, Oklahoma
12Genetics Division, Children's Hospital, Buffalo, New York
13Institute of Genetics, Johns Hopkins Hospital, Baltimore, Maryland
14Developmental Pediatrics, Boca Raton, Florida
15Children’s Hospital, Denver, Colorado, USA

Tóm tắt

AbstractDuring 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.

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Tài liệu tham khảo

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Journal of Inherited Metabolic Disease

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