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(Phe) mostly through decreasing the efficiency of the Enzyme Phenylalaninhydroxilase (PAH). The main danger with this disease is the accumulation of Phe in the blood, which is toxic in high doses. Those will lead to mental retardation and other symptoms

Treatment

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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