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Phenylketonuria (PKU)

Medgadget (blog) - Apr 18, 2017
Phenylketonuria (PKU) is a genetic disorder that is seen in about 1 out of 10,000-15,000 newborns. A defect in the PAH gene that causes lack of an enzyme called phenylalaline hydroxylase which is responsible for breaking down the amino acid, ...

Eating meat could give me seizures: The reality of living with an incurable disease called PKU

The Tab - Mar 20, 2017
PKU, otherwise known as Phenylketonuria. You probably don't know what that is, but you were tested for it the day you were born – it occurs in 1 in 10,000 to 15,000 newborns. I'm one of the seemingly few people in the world living with PKU. Babies who ...

Dietary intervention in the management of phenylketonuria: current perspectives

Dove Medical Press - Dec 1, 2016
Abstract: Phenylketonuria (PKU) is a well-described inborn error of amino acid metabolism that has been treated for >60 years. Enzyme deficiency causes accumulation of phenylalanine (Phe) and if left untreated will lead to profound and irreversible ...

Phenylketonuria - premium items on eBay

Low Protein Cookery for Phenylketonuria-ExLibrary


Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria (Journal of I


NEW Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria by Harkne


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Phenylketonuria books

Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University

This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed.
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Low Protein Cookery for Phenylketonuria

by: Virginia E. Schuett
    Much more than a cookbook, Low Protein Cookery for Phenylketonuria (PKU) is a practical and easy-to-use guide for those who must maintain a protein-restricted diet for treatment of PKU or similar inherited diseases of protein metabolism. It contains hundreds of helpful suggestions for managing the diet. This third edition of Low Protein Cookery for PKU appears exactly twenty years after the original 1977 publication and includes the 450-plus recipes and the hints from the 1988 second edition that have been used and enjoyed by families for nearly a decade.
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The Adventures of Ruby Pricklebottom: Book 1: Ruby Has PKU

by: Anna Marie Parker, Brandon Keith Parker
Book One: Ruby Has PKU chronicles Ruby and her family's journey into the world of Phenylketonuria (PKU). After finding out that Ruby was born with the rare metabolic disorder, Ruby and her family must learn how to manage the PKU diet in order to keep Ruby healthy and happy. Follow the Pricklebottoms’ journey from diagnosis to first day of school, and find out how Ruby manages to be extraordinary!
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Low Protein Food List for PKU

by: Virginia E. Schuett
This book has been replaced by the online service HowMuchPhe.org, and smaller, pocket books are available at howmuchphe.org/books. The Low Protein Food List for PKU has been an indispensible resource for everyone involved in the treatment of phenylketonuria (PKU) since 1995. This third edition contains over 6,000 entries, the most extensive listing yet of foods that are potentially suitable for the diet, nearly double the number found in the previous edition. It includes many new foods found at health-oriented grocery stores, expanding choices for the diet.
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What is Phenylketonuria (PKU)? | Dietitian Raksha Changappa's Video Playlist

Video by www.patedu.com on Phenylketonuria (PKU): causes and symptoms. An inherited disorder of amino acid metabolism, PKU is categorized as an inborn ...

Phenylketonuria (PKU)


A.1.5 Explain the causes and consequences of phenylketonuria (PKU)

Phenylketonuria (PKU) is caused by a mutation to a recessive gene on chromosome 12. This gene would normally convert the amino acid phenylalanine into ...

Phenylketonuria (Inborn Error of Metabolism) for USMLE

Phenylketonuria explained for Medical Students and USMLE. Discussing Pathophysiology, Sign, Symptoms, Clinical Findings, Diagnosis, Treatment and ...

Phenylketonuria | Biochemistry & Genetics

Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.[2] Untreated PKU can lead to ...