In case of its deficiency, hyperphenylalaninemia is observed, which leads to phenylketonuria (PKU), a disease causing mental retardation, unless treated with a low-phenylalanine diet since early ...

These phenotypic classes range from classical PKU, the most severe form of the disease with a Phe tolerance of <20 mg/kg/day, to mild hyperphenylalaninemia (MHP), with blood Phe levels of <600 ...

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† Department of Chemistry, Purdue University, 560 Oval Drive, West Lafayette, Indiana 47907, United States ‡ Department of Molecular Biophysics and Biochemistry, Yale University, 266 Whitney Avenue, ...

Sapropterin dihydrochloride is used to treat hyperphenylalaninemia (HPA), which is characterized by elevated amounts of phenylalanine in the blood. The company is also recalling an additional lot ...

He contributed to the study concept and design, article searches and review/reading, and to the preparation and drafting of the manuscript. Hans Randby, senior consultant. The author has completed the ...