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Perspective Interview - Nenad Blau (Introduction)

Blau 150911

Introduction

1. How does untreated hyperphenylalaninaemia (HPA) affect patients?

2. How (and when) is PKU diagnosed?

3. How many people are affected by PKU and what is the incidence?

4. What treatments are available for PKU in children and adults?

5. What is BH4 co-factor and how does it treat the symptoms of PKU?

6. What is a typical treatment regimen with BH4 cofactor?

7. Do all patients respond to BH4 cofactor treatment?

8. Are there any side effects to BH4 cofactor treatment?

9. How have BH4 cofactors changed PKU management?

Nenad Blau

Senior Consultant in Biochemical Genetics
Dietmar-Hopp-Metabolic Center
Division of Clinical Chemistry and Biochemistry
University Children's Hospital
Heidelberg, Germany