{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T06:17:10Z","timestamp":1699769830942},"reference-count":55,"publisher":"Oxford University Press (OUP)","issue":"537","license":[{"start":{"date-parts":[[1970,7,1]],"date-time":"1970-07-01T00:00:00Z","timestamp":15638400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1970,7,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The development of a practical screening procedure for phenylketonuria and the improvement in methods of chemical analysis have led to a realization that Folling\u2019s (1934) disease of phenylketonuria is not a single entity.<\/jats:p><jats:p>In this commentary, the current view on some aspects of phenylketonuria will be reviewed and the problems illustrated by experience gained in the Phenylketonuria Clinic at the Royal Alexandra Hospital for Children in Sydney, at present attended by fifty-six children. From April 1964, fifty-six infants and children were referred because of a positive screening test. Six were no longer abnormal at the time of retesting, forty-two had classical phenylketonuria and eight showed an atypical pattern. Subsequent family studies revealed five other classical phenylketonuric children, all of whom were retarded, and one other atypical phenylketonuric boy.<\/jats:p>","DOI":"10.1136\/pgmj.46.537.430","type":"journal-article","created":{"date-parts":[[2008,12,29]],"date-time":"2008-12-29T20:27:15Z","timestamp":1230582435000},"page":"430-436","source":"Crossref","is-referenced-by-count":3,"title":["Phenylketonuria: a review"],"prefix":"10.1093","volume":"46","author":[{"given":"J S","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Child Health, University of Sydney, Royal Alexandra Hospitalfor Children , Camperdown, N.S. W. 2050"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[1970,7,1]]},"reference":[{"key":"ref_1","article-title":"to the children of phenylketonuric mothers were made in the early literature, but it was not till the report of Mabry","year":"1966","unstructured":"to the children of phenylketonuric mothers were made in the early literature, but it was not till the report of Mabry et al. (1966) that the full implications of maternal phenylketonuria on the offspring were appreciated. Recently the subject was reviewed by Yu & O'Halloran (1970). They found that sixty-five of the sixty-eight reported children were retarded, twenty-eight were microcephalic, eight of their twelve children suffered from epilepsy.","journal-title":"et al; that the full implications of maternal phenylketonuria on the offspring were appreciated. Recently the subject was reviewed by Yu & O'Halloran"},{"key":"ref_2","article-title":"found a high incidence of congenital heart lesions, notably septal defects, and a high incidence of abortions and low birthweight infants in the affected families. Clearly, the maternal disease and the resulting high phenylalanine environment to which the foetus is exposed are much more serious than previously thought","author":"Stevenson; Huntley","year":"1967","unstructured":"Stevenson & Huntley (1967) found a high incidence of congenital heart lesions, notably septal defects, and a high incidence of abortions and low birthweight infants in the affected families. Clearly, the maternal disease and the resulting high phenylalanine environment to which the foetus is exposed are much more serious than previously thought."},{"key":"ref_3","article-title":"There is one reported case of a phenylketonuric woman being placed on a restricted diet during pregnancy","volume-title":"The diet is said to have been given before pregnancy and then again in the last 5 months; no details are given about the diet in the early pregnancy. The infant resulting from this pregnancy appeared normal","volume":"9","year":"1968","unstructured":"There is one reported case of a phenylketonuric woman being placed on a restricted diet during pregnancy (Allan & Brown, 1968). The diet is said to have been given before pregnancy and then again in the last 5 months; no details are given about the diet in the early pregnancy. The infant resulting from this pregnancy appeared normal at 9 months of age. The microcephaly, cardiac septal anomalies, frequent abortions and low birth-weight infants suggest that the factors responsible commence to have an effect early in pregnancy and continue to do so throughout intrauterine life."},{"key":"ref_4","article-title":"Maternal phenylketonuria and foetal brain damage in Some Recent Advances in some Inborn Errors of Metabolism","volume-title":"London and Edinburgh","author":"ALLAN, J.D.; BROWN, J.K.","year":"1968","unstructured":"ALLAN, J.D. & BROWN, J.K. (1968) Maternal phenylketonuria and foetal brain damage in Some Recent Advances in some Inborn Errors of Metabolism. (Ed. by K. S. Holt and V. P. Coffey), Livingstone, London and Edinburgh."},{"key":"ref_5","article-title":"Variations in Hyperphenylalaninaemia in Aminoacid Metabolism and Genetic Variation","author":"ALLEN, R.J.; FLEMING, L.; R, S.P.I.R.I.T.O.","year":"1967","unstructured":"ALLEN, R.J., FLEMING, L. & SPIRITO. R. (1967) Variations in Hyperphenylalaninaemia in Aminoacid Metabolism and Genetic Variation (Ed. by W. L. Nyhan), McGraw-Hill, New York."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/S0022-3476(66)80237-8","article-title":"Atypical phenylketonuric heterozygote","volume":"68","author":"ANDERSON, J.A.; FISCH, R.; MILLER, E.; DOEDEN, D.","year":"1966","unstructured":"ANDERSON, J.A., FISCH, R., MILLER, E. & DOEDEN, D. (1966) Atypical phenylketonuric heterozygote. Journal of Pediatrics, 68, 351.","journal-title":"Journal of Pediatrics"},{"key":"ref_7","first-page":"38","article-title":"The development of biochemical abnormalities in phenylketonuric children. Chemical Pathology of the Nervous System","author":"ARMSTRONG, M.D.; CENTERWALL, W.R.; HORNER, F.A.; Low, N.L.; WEIL, W.B.","year":"1961","unstructured":"ARMSTRONG, M.D., CENTERWALL, W.R., HORNER, F.A., Low, N.L. & WEIL, W.B. JR (1961) The development of biochemical abnormalities in phenylketonuric children. Chemical Pathology of the Nervous System. (Ed. by J. Folch-Pi), P. 38, Pergamon Press, London.","journal-title":"JR"},{"key":"ref_8","first-page":"840","article-title":"Phenylalaninaemia in Aminoacid Metabolism and Genetic Variation","volume":"71","author":"AUERBACH, V.H.; GEORGE, Di; M., A.; CARPENTER, G.G.","year":"1967","unstructured":"AUERBACH, V.H., Di GEORGE, A.M. & CARPENTER, G.G. (1967) Phenylalaninaemia in Aminoacid Metabolism and Genetic Variation. (Ed. by W. L. Nyhan), McGraw-Hill, BAUMEISTER, A.A. (1967) The effects of dietary control on intelligence in phenylketonuria. 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