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A Chinese Classic Phenylketonuria Manifested as Autism

Published online by Cambridge University Press:  02 January 2018

C. H. Chen  and
K. J. Hsiao
C. H. Chen*
Affiliation:
Department of Psychiatry
K. J. Hsiao
Affiliation:
Clinical Biochemistry Research Laboratory, Department of Medical Research, Veterans' General Hospital, Taipei, Taiwan 11217, Republic of China
*
∗Peitou PO Box 2-207, Taipei, Taiwan 11216, Republic of China
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Abstract

A 12-year-old Chinese boy had a diagnosis of infantile autism at infancy that was finally confirmed as classic phenylketonuria at adolescence. This treatable inborn metabolic disease should be investigated in cases of apparent autism, especially where mass neonatal screening of inborn metabolic diseases has not been established.

Type
Brief Reports
Information
The British Journal of Psychiatry , Volume 155 , Issue 2 , August 1989 , pp. 251 - 253
Copyright
Copyright © Royal College of Psychiatrists, 1989 

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References

Bickel, H. (1980) Rationale of neonatal screening for inborn errors of metabolism In Neonatal Screening for Inborn Errors of Metabolism (eds Bickel H., Guthrie R. & Hammersen G.). New York: Springer-Verlag.Google Scholar
Colombo, J. P., Hammersen, G. & Bickel, H. (1980) Recommendations for newborn screening In Neonatal Screening for Inborn Errors of Metabolism (eds Bickel H., Guthrie R. & Hammersen G.). New York: Springer-Verlag.Google Scholar
Frankenburg, W. K. & Dodds, J. R. (1969) Denver Developmental Screening Test. Colorado: University of Colorado Medical Center.Google Scholar
Friedman, E. (1969) The autistic syndromes and phenylketonuria. Schizophrenia, 1, 249–261.Google Scholar
Gillberg, C. & Svennerholm, L. (1987) CSF monoamines in autistic syndromes and other pervasive developmental disorders of early childhood. British Journal of Psychiatry, 151, 89–94.Google Scholar
Guthrie, R. & Susi, A. (1963) A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics, 32, 338–343.CrossRefGoogle ScholarPubMed
Hsiao, K. J., Hung, S. H. Wu, S. J., et al (1985) Gas chromatographic analysis of abnormal urinary organic acids in phenylketonuria. Journal of the Formosan Medical Association, 84, 1240–1250.Google Scholar
Hsiao, K. J., Wuu, K. D., Sheen, F. M., et al (1984) Congenital metabolic diseases in mentally retarded Chinese children: screening for congenital hypothyroidism, phenylketonuria, galactosemia, maple syrup urine disease and homocystinuria. Chinese Medical Journal, 34, 31–32.Google Scholar
Liu, S. R. & Zuo, Q. H. (1986) Newborn screening for phenylketonuria in eleven districts. Chinese Medical Journal, 99, 113–118.Google ScholarPubMed
Lowe, T. L., Tanaka, K., Seashore, M. R., et al (1980) Detection of phenylketonuria in autistic and psychotic children. Journal of the American Medical Association, 243, 126–128.Google Scholar
Niederwieser, A., Matasovic, A., Staudenman, W., et al (1982) Screening for tetrahydrobiopterin deficiency In Biochemical and Clinical Aspects of Pteridines, vol. 1 (eds Wachter H., Curtius H. Ch. & Pfleiderer W.). Berlin: Walter de Gruyter.Google Scholar
Perry, T. L., Hansen, S., Tischler, B., et al (1973) Unrecognized adult phenylketonuria: implications for obstetrics and psychiatry. New England Journal of Medicine, 289, 395–398.Google Scholar
Petty, L. K., Ornitz, E. M., Michelman, J. D., et al (1984) Autistic children who become schizophrenic. Archives of General Psychiatry, 41, 129–135.CrossRefGoogle ScholarPubMed
Ritvo, E. R. & Freeman, B. J. (1984) A medical model of autism: etiology, pathology and treatment. Pediatrics Annals, 13, 298–305.Google Scholar
Tocci, P. M. (1982) Phenylalanine, fluorometric method In Selected Methods of Clinical Chemistry (eds Faulkner W. R., Meites S. & Marcum S. V.). Washington, DC: American Association for Clinical Chemistry.Google Scholar
Tourian, A. & Sidbury, J. B. (1983) Phenylketonuria and hyper-phenylalaninemia In The Metabolic Basis of Inherited Disease (eds Stanbury J. B. et al). New York: McGraw-Hill Book Company.Google Scholar
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