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Tetrahydrobiopterin as an Alternative Treatment for Mild Phenylketonuria

2002; Massachusetts Medical Society; Volume: 347; Issue: 26 Linguagem: Inglês

10.1056/nejmoa021654

1533-4406

Ania C. Muntau, Wulf Röschinger, Matthias Habich, Hans Demmelmair, B. Hoffmann, Christian P. Sommerhoff, Adelbert A. Roscher,

Metabolomics and Mass Spectrometry Studies

Hyperphenylalaninemia is a common inherited metabolic disease that is due to phenylalanine hydroxylase deficiency, and at least half the affected patients have mild clinical phenotypes. Treatment with a low-phenylalanine diet represents a substantial psychosocial burden, but alternative treatments have not been effective.