Phenylketonuria and BH4 Deficiencies (UNI-MED Science), 4th Edition

Name: Phenylketonuria and BH4 Deficiencies (UNI-MED Science), 4th Edition
SKU: 137999
Price: 6 USD
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6 $

Format : Publisher PDF

File Size : 1.9 MB

Category: Biochemistry Books

Description

Phenylketonuria and BH4 Deficiencies (UNI-MED Science), 4th Edition

By Alberto B. Burlina, Barbara K. Burton, Claire Cannet, Nenad Blau
In patients with phenylketonuria (PKU), blood phenylalanine concentration during childhood is the major determinant of cognitive outcome. Thanks to newborn screening and early dietary therapy, individuals with PKU no longer experience intellectual disability. Nevertheless, some do not achieve their full potential. The establishment of uniform guidelines and improved management for PKU can lead to optimal outcomes in this metabolic disorder.Since in 1999 it has been shown that some patients with PKU respond to the administration of tetrahydrobiopterin (BH4; sapropterin dihydrochloride) by lowering blood phenylalanine concentrations, that these patients can be treated with sapropterin dihydrochloride. Enzyme substitution therapy with phenylalanine ammonia lyase (PAL) is a promising new option, along with diet and sapropterin, to reduce Phe levels and improve the clinical outcome of subjects with PKU. Gene therapy is another new approach which remains to be evaluated in upcoming studies. It has been also shown that patient’s genotype determines the phenotype and helps in predicting BH4 responsiveness.In the 4th edition of this textbook past, present, and future efforts related to PKU and BH4 deficiencies are discussed. The reviews and scientific contributions in this book provide professionals, the patients, and their families to understand PKU within a biochemical, neurological and psychological context.

Phenylketonuria (PKU) is a metabolic disorder that affects the body’s ability to break down an amino acid called phenylalanine. In patients with PKU, high levels of phenylalanine can build up in the blood, leading to serious health problems, including intellectual disability. However, with early detection through newborn screening and appropriate dietary therapy, individuals with PKU can now lead normal lives and avoid the devastating cognitive effects of the condition.

One of the most significant factors in determining the cognitive outcome of patients with PKU is their blood phenylalanine concentration during childhood. To maximize their potential, it is crucial to establish uniform guidelines for management and ensure that patients receive optimal care throughout their lives. In the newly released 4th edition of the book “Phenylketonuria and BH4 Deficiencies,” authors Alberto B. Burlina, Barbara K. Burton, Claire Cannet, and Nenad Blau explore the past, present, and future efforts related to PKU and BH4 deficiencies.

This comprehensive textbook delves into the biochemical, neurological, and psychological aspects of PKU, providing professionals, patients, and their families with a deeper understanding of the condition. It serves as a valuable resource for healthcare providers seeking to enhance their knowledge of PKU and improve the care they provide to their patients.

Reviews of the Book

“Phenylketonuria and BH4 Deficiencies” has received rave reviews from both professionals in the field and individuals with PKU and their families. Experts praise the book for its in-depth analysis and up-to-date information on PKU management strategies. Families affected by PKU find this book particularly helpful in gaining insights into the condition and the latest developments in treatment options.

One reviewer writes, “As a clinician specializing in metabolic disorders, I highly recommend this book to anyone involved in the care of patients with PKU. The authors provide a comprehensive overview of the subject, covering everything from the underlying biology to the latest treatment modalities. It is an indispensable resource for healthcare professionals seeking to optimize the outcomes of their patients with PKU.”

Another reviewer, who is a parent of a child with PKU, shares their experience, saying, “This book has been a game-changer for our family. It helped us understand the science behind PKU and provided valuable insights into the dietary management and emerging treatment options. It’s a must-read for any parent navigating the challenges of raising a child with PKU.”

Order Your Copy Today!

If you are a healthcare professional looking to expand your knowledge of PKU or a family affected by the condition, “Phenylketonuria and BH4 Deficiencies” is a must-have resource. With its comprehensive coverage of the subject and insightful contributions from leading experts in the field, this book offers a wealth of information to help you navigate the challenges associated with PKU.

To order your copy of “Phenylketonuria and BH4 Deficiencies,” simply click the link below and add the book to your cart. Stay informed, gain valuable insights, and make a difference in the lives of individuals with PKU by ordering your copy today!

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About the Authors

Alberto B. Burlina, Barbara K. Burton, Claire Cannet, and Nenad Blau are esteemed professionals in the field of metabolic disorders and have dedicated their careers to advancing the understanding and management of PKU. Their combined expertise and passion for improving patient outcomes shine through in this comprehensive textbook.

Don’t miss out on this invaluable resource. Order your copy of “Phenylketonuria and BH4 Deficiencies” today and embark on a journey towards enhanced care and improved outcomes for individuals with PKU.