Phenylketonuria (PKU)

References

Citations

1. Feldman W (1994). Screening for phenylketonuria. Canadian Task Force on the Periodic Health Examination. Available online: http://www.ctfphc.org/Full_Text/Ch17full.htm.

2. Grompe M (2003). Phenylketonuria section of Disorders of acid metabolism. In CD Rudolph, AM Rudolph, eds., Rudolph's Pediatrics, 21st ed., chap. 9.2, pp. 609–611. New York: McGraw-Hill.

3. Rezvani I (2007). Phenylalanine section of Defects in metabolism of amino acids. In RM Kliegman et al., eds., Nelson Textbook of Pediatrics, 18th ed., chap. 85, pp. 529–532. Philadelphia: Saunders Elsevier.

4. March of Dimes (2007). PKU (Phenylketonuria). Available online: http://www.marchofdimes.com/pnhec/4439_1219.asp.

5. Waisbren SE, Azen C (2003). Cognitive and behavioral development in maternal phenylketonuria offspring. Pediatrics, 112(6, Part 2): 1544–1547.

6. Wappner RS (2006). Disorders of phenylalanine and tyrosine metabolism section of Disorders of amino acid and organic acid metabolism. In JA McMillan et al., eds., Oski's Pediatrics: Principles and Practice, 4th ed., chap. 385, pp. 2153–2157. Philadelphia: Lippincott Williams and Wilkins.

7. Kaye CI, and the Committee on Genetics, American Academy of Pediatrics (2006). Phenylketonuria section of Newborn screening fact sheets: Technical report. Pediatrics, 118(3): e956–e957.

Other Works Consulted

• Accardo PJ, et al. (2006). Mental retardation. In JA McMillan et al., eds., Oski's Pediatrics: Principles and Practice, 4th ed., chap. 98, pp. 608–614. Philadelphia: Lippincott Williams and Wilkins.

• Durkin MS, et al. (2008). Childhood cognitive disability. In RB Wallace et al., eds., Wallace/Maxcy-Rosenau-Last Public Health and Preventive Medicine, 15th ed., pp. 1173–1183. New York: McGraw-Hill.

• National Institutes of Health (2000). Phenylketonuria (PKU): Screening and management. NIH Consensus Statement, 17(3): 1–33.

• Nowacki PM, et al. (2007). Hyperphenylalaninemia (PKU) Resource Booklet for Families. The Montreal Children's Hospital. Available online: http://www.pahdb.mcgill.ca/?Topic=Information&Section=Clinical&Page=1.

• Ropper AH , Brown RH (2005). The inherited metabolic diseases of the nervous system. In Adams and Victor's Principles of Neurology, 8th ed., pp. 797–849. New York: McGraw-Hill.

• Thomas JA, Van Hove JLK (2007). Phenylketonuria and the hyperphenylalaninemias section of Inborn errors of metabolism. In WW Hay Jr et al., eds., Current Pediatric Diagnosis and Treatment, 18th ed., pp. 996–997. New York: McGraw-Hill.

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Author:	Debby Golonka, MPH Ralph Poore	Last Updated: April 15, 2008
Medical Review:	Anne C. Poinier, MD - Internal Medicine Michael J. Sexton, MD - Pediatrics Thomas Emmett Francoeur, MDCM, CSPQ, FRCPC - Pediatrics
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