The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria.

Nutrients
Alessandro P BurlinaAlberto B Burlina

Abstract

The gold standard treatment for phenylketonuria (PKU) is a lifelong low-phenylalanine (Phe) diet supplemented with Phe-free protein substitutes. Adherence to therapy becomes difficult after childhood. Supplementing with large neutral amino acids (LNAAs) has been proposed as an alternative medication to Phe-free protein substitutes (i.e., amino acid mixtures). The aim of this study was to evaluate adherence to therapy and quality of life (QoL) in a cohort of sub-optimally controlled adult PKU patients treated with a new LNAA formulation. Twelve patients were enrolled in a 12-month-trial of slow-release LNAAs (1g/kg/day) plus a Phe-restricted diet. Medication adherence was measured with the Morisky Green Levine Medication Adherence Scale; the QoL was measured using the phenylketonuria-quality of life (PKU-QoL) questionnaire. Phe, tyrosine (Tyr) levels, and Phe/Tyr ratios were measured fortnightly. Before treatment, 3/12 patients self-reported a 'medium' adherence to medication and 9/12 reported a low adherence; 60% of patients reported a full adherence over the past four weeks. After 12 months of LNAA treatment, all patients self-reported a high adherence to medication, with 96% reporting a full adherence. Phe levels remained unc...Continue Reading

References

Mar 1, 1997·Journal of Inherited Metabolic Disease·S E WaisbrenJ Warner-Rogers
Jan 1, 1953·Annual Review of Biochemistry·H N CHRISTENSEN
Sep 22, 2006·Journal of Inherited Metabolic Disease·R MatalonF Guttler
Mar 21, 2007·Molecular Genetics and Metabolism·Suzanne SchindelerJohn Christodoulou
Dec 11, 2008·Journal of Inherited Metabolic Disease·A Burlina, N Blau
Apr 8, 2010·Journal of Inherited Metabolic Disease·Anita MacDonaldPeter Burgard
Aug 4, 2010·Molecular Genetics and Metabolism·G M EnnsE Jurecki
Oct 26, 2010·Lancet·Nenad BlauHarvey L Levy
Oct 27, 2010·Journal of Inherited Metabolic Disease·Francjan J van SpronsenMargreet van Rijn
Mar 11, 2011·Mayo Clinic Proceedings·Marie T Brown, Jennifer K Bussell
Dec 5, 2012·Annals of Nutrition & Metabolism·A MaCdonaldF J van Spronsen
Jan 5, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jerry VockleySusan A Berry
Mar 29, 2014·Molecular Genetics and Metabolism·Kathryn M CampJustin M Young
Dec 2, 2015·Translational Behavioral Medicine·Michael J StirrattWendy J Nilsen
Feb 27, 2016·Human Mutation·Nenad Blau
Sep 15, 2016·European Journal of Clinical Nutrition·D ConcolinoP Strisciuglio
Dec 19, 2016·Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research·Hadi BeyhaghiSally C Stearns
Jan 14, 2017·The Lancet. Diabetes & Endocrinology·Francjan J van SpronsenAnita MacDonald
Feb 7, 2017·Molecular Genetics and Metabolism·E R JureckiJ L Cohen-Pfeffer
May 12, 2017·Molecular Genetics and Metabolism Reports·María Ignacia GarcíaAlicia de la Parra
Oct 14, 2017·Orphanet Journal of Rare Diseases·A M J van WegbergF J van Spronsen
Aug 3, 2018·Molecular Genetics and Metabolism Reports·Chiara CazzorlaAlberto Burlina
Dec 14, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nicola LongoCary O Harding
Jan 29, 2019·Journal of Inherited Metabolic Disease·Alessandro P BurlinaAlberto Burlina
Jan 16, 2020·Orphanet Journal of Rare Diseases·Michael PuglieseUNKNOWN Canadian Inherited Metabolic Diseases Research Network

❮ Previous
Next ❯

Citations

Nov 24, 2020·Current Medical Research and Opinion·Alberto BurlinaAlbina Tummolo

❮ 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.