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e-book: Practical guidelines for the introduction of sapropterin into the management of phenylketonuria - Manual for healthcare professionals

e-book: Practical guidelines for the introduction of sapropterin into the management of phenylketonuria - Manual for healthcare professionals
  • Endocrinology and metabolism
  • Phenylketonuria (PKU)

Resource type

Slide kit

Tags

sapropterin

Authors:

Margreet van Rijn
Karen Anjema
Esther van Dam
Foekje de Boer
Francjan van Spronsen


This manual will focus on the use of a pharmacological treatment option,sapropterin dihydrochloride, within the management of phenylketonuria (PKU) arising due to phenylalanine hydroxylase (PAH) deficiency. Sapropterin is a synthetic,  pharmaceutical  formulation  of  naturally  occurring 6R- tetrahydrobiopterin (BH4),  a  cofactor  of  the  hydroxylase  enzymes  for phenylalanine, tyrosine, tryptophan and nitric oxide. “Sapropterin” will be used as shorthand for sapropterin dihydrochloride throughout.

This manual will not provide details on the pathophysiology and basic treatment of PKU 1-6 ; neither will it address the overall management of tetrahydrobiopterin deficiency. This practical guideline is written for all physicians and dieticians with basic theoretical and practical knowledge for the traditional management of PKU in centres with appropriate expertise and resources. Staff and patients are expected to be familiar with the principles and requirements of dietary treatment.

The University Medical Center of Groningen has long-standing experience in the management of PKU and is a reference center for PKU and some other inborn errors of metabolism. The authors have almost 4 years, experience with sapropterin in clinical practice, but accept that their knowledge is far from complete, and are eager to learn more and to share their growing experience with all kind of aspects of this exciting disease.

Terms of use

This is a copyrighted resource for the sole purpose of education. Resource may be used for classroom training only and must remain as is, including the branding and EXCEMED logo. It is backed by a publishing license, signed by the author.