Recommendations for the use of sapropterin in phenylketonuria

Molecular Genetics and Metabolism
Amy CunninghamStephen Cederbaum

Abstract

Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. Until recently, the only treatment for PKU was a Phe-restricted diet. Increasing evidence of suboptimal outcomes in diet-treated individuals, inconsistent PKU management practices, and the recent availability of tetrahydrobiopterin (BH(4)) therapy have fueled the need for new management and treatment recommendations for this metabolic disorder. BH(4), now available as sapropterin dihydrochloride (sapropterin), may offer the potential for improved metabolic control as well as enhanced dietary Phe tolerance in some PKU patients. A group of metabolic dietitians from North America convened in June 2011 to draft recommendations for the use of sapropterin therapy in PKU. Physicians with extensive experience in PKU management were invited at a later date to contribute to the development of these recommendations. Based on extensive clinical experience and current evidence, the present recommendations provide guidance from patient selection and determination of sapropterin response to the long-term management of patients on sapropterin therapy. Target Phe levels, nutritional adequacy, neurocognitive screening and adherence to treatment are addressed to opt...Continue Reading

References

Feb 29, 2000·American Journal of Obstetrics and Gynecology·L D PlattE G Friedman
Mar 8, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Amanda Savage BrownSonja A Rasmussen
Dec 27, 2002·The New England Journal of Medicine·Ania C MuntauAdelbert A Roscher
Jan 23, 2003·Developmental Neuropsychology·Stephan HuijbregtsFrancjan van Spronsen
May 26, 2004·Journal of Inherited Metabolic Disease·F RohrS Waisbren
Aug 11, 2005·Molecular Genetics and Metabolism·John J MitchellJohn Christodoulou
Aug 16, 2008·Molecular Genetics and Metabolism·Vera AnastasoaieSusan Waisbren
Nov 29, 2008·Neuroscience and Biobehavioral Reviews·Julia AlbrechtPeter Burgard
Dec 3, 2008·Pediatrics·Richard Koch
Jun 1, 2004·Nutrition Research Reviews·J E CadeB M Margetts
Sep 15, 2009·Molecular Genetics and Metabolism·Erin L MacLeodDenise M Ney
Oct 6, 2009·Molecular Genetics and Metabolism·Nenad BlauUNKNOWN European PKU centers
Apr 27, 2010·Molecular Genetics and Metabolism·H J VernonA Hamosh
Jul 20, 2010·Molecular Genetics and Metabolism·Barbara K BurtonChristine Sullivan
Aug 4, 2010·Molecular Genetics and Metabolism·G M EnnsE Jurecki
Oct 5, 2010·The Journal of Pediatrics·Barbara K BurtonKathleen T Swan
Oct 30, 2010·The Journal of Pediatrics·Stephen Cederbaum
Feb 4, 2011·Journal of Inherited Metabolic Disease·Charlotte DawsonRobin H Lachmann
Feb 25, 2011·Journal of Inherited Metabolic Disease·Francjan J van Spronsen
Mar 23, 2011·Developmental Medicine and Child Neurology·Jaume CampistolUNKNOWN PKU Follow-up Unit
Apr 9, 2011·Annals of Nutrition & Metabolism·Margreet van RijnFrancjan J van Spronsen
May 11, 2011·Journal of Inherited Metabolic Disease·Krista S ViauNicola Longo
Jun 3, 2011·Molecular Genetics and Metabolism·W B Hanley

❮ Previous
Next ❯

Citations

Jan 5, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jerry VockleySusan A Berry
Jan 5, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Rani H SinghSandra C Van Calcar
Sep 11, 2013·Molecular Genetics and Metabolism·A M LammardoF Feillet
Dec 5, 2014·BMC Public Health·Chiara CazzorlaAlberto B Burlina
Dec 4, 2014·Molecular Genetics and Metabolism·Frances RohrHarvey L Levy
Feb 5, 2013·Molecular Genetics and Metabolism·Thomas OpladenNenad Blau
Jun 21, 2015·Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research·Kathleen W WyrwichSuyash Prasad
May 24, 2016·Molecular Genetics and Metabolism·Rani H SinghFrances Rohr
Sep 19, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nicola LongoSuyash Prasad
Jul 3, 2013·Molecular Genetics and Metabolism·Luis Aldámiz-EchevarríaFelix Sánchez-Valverde
Mar 29, 2014·Molecular Genetics and Metabolism·Kathryn M CampJustin M Young
Nov 11, 2014·Topics in Clinical Nutrition·Elaina R JureckiJessica L Cohen-Pfeffer
Jun 17, 2015·Nutrition in Clinical Practice : Official Publication of the American Society for Parenteral and Enteral Nutrition·Suzanne W BoyerLindsay C Burrage
Aug 6, 2013·The Journal of Pharmacology and Experimental Therapeutics·Robert J G CardnellRoss B Mikkelsen
Feb 26, 2016·Journal of Pediatric Endocrinology & Metabolism : JPEM·Mojca Zerjav TansekTadej Battelino

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.