Phenylketonuria 2012

Summary

Phenylketonuria is a widely distributed an known disease, with rarely severe effects (with the right treatment). It affects the digestion of Phenylalanin mostly through decreasing the efficiency of the Enzyme Phenylalaninhydroxilase (PAH), but there are other causes for similar diseases, which are strongly connected with this disease. (see [wikiref hier])

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References

N. Blau, J. Hennermann, U. Langenbeck, U. Lichter-Konecki, Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies; Molecular Genetics and Metabolism 104 (2011) S2-S9

A. Bélanger-Quintana, A. Burlina, C. Harding, A. Muntau, Up to date knowledge on different treatment strategies for phenylketonuria; Molecular Genetics and Metabolism 104 (2011) S19-S25