The PKU Book Phenylketonuria and Other Hyperphenylalaninemias

Nenad Blau, is a Senior Consultant in Biochemical Genetics at the University Children’s Hospital of Zürich, Switzerland, and Professor emeritus in Clinical Biochemistry at the University of Zürich. He served in the same function at the Children’s Hospital in Heidelberg, Germany from 2011-2019. He was the Head of the Laboratory for Tetrahydrobiopterin and Neurotransmitter Diseases at the University Children’s Hospital in Zürich, Switzerland, where his research group discovered several inborn errors of metabolism, including GTPCH, PCD and SR deficiencies. His current research focuses on epidemiology, population genetics, genotype-phenotype correlation, and genotypic phenotype prediction in PKU and other inherited metabolic diseases. Prof. Blau is an honorary member of the Italian Society for Pediatrics and of the German Society for Inherited Metabolic Disorders. In 2001, he received the Horst¬ Bickel-Award, in 2005 the Gowland Hopkins Award and in 2011 the Asbjørn Følling Award for his research in the field of tetrahydrobiopterin and PKU. Prof. Blau is author of more than 450 research publications and 12 books, including the standard textbooks ‘Physician's Guide to the Diagnosis, Treatment and Follow-up of Inherited Metabolic Diseases’ and ‘Laboratory Guide to the Methods in Biochemical Genetics’. Currently he serves as Deputy Editor-in-Chief for the journal Molecular Genetics and Metabolism.