Issues in newborn screening for phenylketonuria

American Family Physician

Volumn 60, Issue 5, 1999, Pages 1462-1466

  Koch, Richard K ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE;

ARTICLE; DEVELOPMENTAL DISORDER; DIAGNOSTIC TEST; DIET RESTRICTION; FOLLOW UP; MENTAL DEFICIENCY; NEWBORN SCREENING; PATIENT COUNSELING; PHENYLKETONURIA;

HUMANS; INFANT, NEWBORN; MASS SCREENING; NUTRITION POLICY; PHENYLALANINE; PHENYLKETONURIAS; REFERENCE VALUES;

EID: 0032753733     PISSN: 0002838X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

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2. Azen CG, Koch R, Friedman EG, Berlow S, Coldwell J, Krause W, et al. Intellectual development in 12-year-old children treated for phenylketonuria. Am J Dis Child 1991;145:35-9.
3. Koch JH. PKU: what's that? and profiles of patients with PKU. In: Koch J, ed. Robert Guthrie: the PKU story. Pasadena, Calif.: Hope Publishing, 1997;19-29,159-61.
4. Koch R, Wenz E. Phenylketonuria. Annu Rev Nutr 1987;7:117-35.
5. Lenke RR, Levy HL. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med 1980;303:1202-8.
6. Scriver CR, Eisensmith RC, Woo SL. Hyperphenylalaninemia. In: Scriver CR, ed. The metabolic and molecular bases of inherited disease. 7th ed. New York, N.Y.: McGraw-Hill, 1995;1015-75.
7. Guthrie R. Blood screening for phenylketonuria. JAMA 1961;178:863.
8. McCamon NW, Robins E. Fluorometric method for the determination of phenylalanine in Serum. J Lab Clin Med 1965;59:885-90.
9. Jew K, Kam K, Koch R, Cunningham GC. Validity of screening early collected newborn specimens for phenylketonuria using a fluorometric method. Screening 1994;3:1-9.
10. American Academy of Pediatrics Committee on Genetics. Newborn screening fact sheet. Pediatrics 1996;98:473-501.
11. Koch R, Fishler K, Azen C, Guldberg P, Guttler F. The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency. Biochem Mol Med 1997;60:92-101.
12. Berlin CM, Levy H, Hanley WB. Delayed increase in blood phenylalanine concentration in phenylketonuric children initially classified as mild hyperphenylalaninemia. Screening 1995;35-9.
13. Platt LD, Koch R, Azen C, Hanley WB, Levy HL, Matalon R, et al. Maternal phenylketonuria collaborative study, obstetric aspects and outcome: the first six years. Am J Obstet Gynecol 1992;166: 1150-60.
14. Koch R, Wenz E, Bauman C, Friedman EG, Azen C, Fishler K, et al. Treatment outcome of maternal phenylketonuria. Acta Paediatr Jpn 1988;30: 410-6.