Review
doi: 10.1016/j.ymgme.2004.03.006.
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
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- PMID: 15171997
- DOI: 10.1016/j.ymgme.2004.03.006
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Review
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
Mol Genet Metab.
2004 Jun.
Abstract
About two-thirds of all mild phenylketonuria (PKU) patients are tetrahydrobiopterin (BH4)-responsive and thus can be potentially treated with BH4 instead of a low-phenylalanine diet. Although there has been an increase in the amount of information relating to the diagnosis and treatment of this new variant of PKU, very little is know about the mechanisms of BH4-responsiveness. This review will focus on laboratory investigations and possible molecular and structural mechanisms involved in this process.
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