Prevention is better than Treatment

Phenylketonuria (PKU)

Phenylketonuria (PKU) is a disorder caused by an inborn error of metabolism.  Its rate of incidence is approximately one in 10,000 newborns in the United States.1   Classical PKU is characterized by a highly elevated blood Phenylalanine concentration  which results from the absence of the hepatic enzyme Phenylalanine hydroxylase (EC  The resulting increased circulating concentration of Phenylalanine, if left untreated, can result in a variety of symptoms -  the major one being mental retardation.1  Once diagnosed, treatment with a special diet that restricts dietary Phenylalanine should be initiated promptly.  Delays in treatment have been correlated with increases in the severity of the retardation.3,4,5

1.      Scriver, C.R., Kaufman, S., and S.L.C. Woo.  In,  The Metabolic Basis of Inherited Diseases I,  C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, Eds., Sixth Edition, McGraw Hill, 1989,  p. 495.

2.      Jervis, G.A. 1953  Proc. Soc. Exp. Biol. Med.  82:514.

3.      Waisbren, S.E., Mahon, B.E., Schnell, R.R., and  H.L., Levy.  1987  Pediatrics 79:351.

4.      Rylance, G.  1989  Postgrad. Med. J.  65 (Suppl. 2) S7.

5.      Smith, L., Beasley, M.G., and A.E. Ades.  1990  Arch. Dis. Childhood  65:472.




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Page last edited on 05/07/2005