Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria

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Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria

Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as "responders." Although prior research has identified biochemical and genotypic differences between BH4 responders and non-responders, cognitive and neural differences remain largely unexplored. To this end, we compared intelligen...

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Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency

10.1586/EEM.10.39 Phenylketonuria Phenylketonuria (PKU; Online Mendelian Inheritance in Man No. 262600) is a genetic disorder characterized by a deficiency of the hepatic enzyme phenylalanine-4-hydroxylase (PAH; EC 1.14.16.1), causing elevated concentrations of phenylalanine (Phe) in the blood and brain. Hyperphenylalaninemia (HPA) can also be caused by a deficiency of tetrahydrobiopterin (BH4)...

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ژورنال

عنوان ژورنال: Molecular Genetics and Metabolism Reports

سال: 2017

ISSN: 2214-4269

DOI: 10.1016/j.ymgmr.2017.01.013