The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Blau N; Erlandsen H

doi:10.1016/j.ymgme.2004.03.006

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Journal article

The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Blau N Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland. nenad.blau@kispi.unizh.ch
Erlandsen H

2004-06-03

Published in:

Molecular genetics and metabolism. - 2004

English 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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