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Phenylketonuria

Phenylalanine hydroxylase studies gain insights into phenylketonuria

Published in Biotech Business Week, January 26th, 2004

Structural studies on phenylalanine hydroxylase have provided insights toward understanding and treating phenylketonuria.

"Mutations in the gene encoding for phenylalanine hydroxylase (PAH) result in phenylketonuria (PKU) or hyperphenylalaninemia (HPA). Several 3- dimensional structures of truncated forms of PAH have been determined in our laboratory and by others, using X-ray crystallographic techniques. These structures have allowed for a detailed mapping of the >250 missense mutations known to cause PKU or HPA found throughout the three domains of PAH," investigators in the United States report.

"This structural information has helped formulate...

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