Phenylketonuria


Phenylketonuria (Hyperphenylalaninemia ; HPA ; PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme hepatic phenylalanine hydroxylase (PAH). PAH is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate, which is detected in the urine. Left untreated, this condition can cause problems with brain development, leading to progressive mental retardation and seizures.

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References

  1. Uniprot: P00439
  2. OMIM: Entry 261600
  3. Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (pp 83) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  4. Burgard P, Rupp A, Konecki DS, Trefz FK, Schmidt H, Lichter-Konecki U: Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria. Eur J Pediatr. 1996 Jul;155 Suppl 1:S11-5. Pubmed
  5. Eisensmith RC, Woo SL: Gene therapy for phenylketonuria. Eur J Pediatr. 1996 Jul;155 Suppl 1:S16-9. Pubmed
  6. Hanley WB, Lee AW, Hanley AJ, Lehotay DC, Austin VJ, Schoonheyt WE, Platt BA, Clarke JT: “Hypotyrosinemia” in phenylketonuria. Mol Genet Metab. 2000 Apr;69(4):286-94. Pubmed
  7. Kalaydjieva L, Dworniczak B, Kucinskas V, Yurgeliavicius V, Kunert E, Horst J: Geographical distribution gradients of the major PKU mutations and the linked haplotypes. Hum Genet. 1991 Feb;86(4):411-3. Pubmed