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Mol Genet Metab. 2011 Sep-Oct;104(1-2):23-6. doi: 10.1016/j.ymgme.2011.05.007. Epub 2011 May 14.

Non-PKU mild hyperphenylalaninemia (MHP)--the dilemma.

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Division of Clinical Genetics, Department of Paediatrics, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.


Recent reviews have suggested that some patients with "non-PKU mild hyperphenylalaninemia" (MHP) might display neuropsychological executive function deficits and should be considered for treatment with tetrahydrobipterin (BH4) and/or phenylalanine (Phe) restricted diet. Patients with phenylketonuria (PKU)--Classical and Mild/Atypical variants--appear to need "mean lifetime phenylalanine (Phe) levels" of 120-360 μmol/L for optimal results. MHP patients, on the other hand, have natural Phe levels of 200-600 μmol/L. Until recently this was thought to be a benign condition. The available literature has been reviewed in detail and no good evidence, to date, has been uncovered to support treatment of MHP. It is suggested that more MHP subjects be tested to confirm this. A plea is made to formulate a consistent world-wide classification of the PKU phenotypes.

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