Cargando…

Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1

INTRODUCTION: Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a defect in the tyrosine degradation pathway. Current treatment consists of 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and a tyrosine and phenylalanine restricted diet. Recently, neuropsychol...

Descripción completa

Detalles Bibliográficos
Autores principales:	van Ginkel, Willem G., van Vliet, Danique, Burgerhof, Johannes G. M., de Blaauw, Pim, Rubio Gozalbo, M. Estela, Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614617/ https://www.ncbi.nlm.nih.gov/pubmed/28949985 http://dx.doi.org/10.1371/journal.pone.0185342

Ejemplares similares

The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients
por: van Ginkel, Willem G., et al.
Publicado: (2019)

Blood and Brain Biochemistry and Behaviour in NTBC and Dietary Treated Tyrosinemia Type 1 Mice
por: van Ginkel, Willem G., et al.
Publicado: (2019)

Dried blood spot versus venous blood sampling for phenylalanine and tyrosine
por: van Vliet, Kimber, et al.
Publicado: (2020)

Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day
por: Kienstra, Nienke S., et al.
Publicado: (2017)

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1
por: van Ginkel, Willem G., et al.
Publicado: (2019)

Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients
por: van Vliet, Kimber, et al.
Publicado: (2019)

The Benefit of Large Neutral Amino Acid Supplementation to a Liberalized Phenylalanine-Restricted Diet in Adult Phenylketonuria Patients: Evidence from Adult Pah-Enu2 Mice
por: van Vliet, Danique, et al.
Publicado: (2019)

Gut-Microbiome Composition in Response to Phenylketonuria Depends on Dietary Phenylalanine in BTBR Pah(enu2) Mice
por: van der Goot, Els, et al.
Publicado: (2022)

Aspartame and Phe-Containing Degradation Products in Soft Drinks across Europe
por: van Vliet, Kimber, et al.
Publicado: (2020)

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls
por: van Ginkel, Willem G., et al.
Publicado: (2016)

Single amino acid supplementation in aminoacidopathies: a systematic review
por: van Vliet, Danique, et al.
Publicado: (2014)

Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice
por: van Vliet, Danique, et al.
Publicado: (2015)

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
por: van Vliet, Kimber, et al.
Publicado: (2019)

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype
por: Anjema, Karen, et al.
Publicado: (2013)

Preventive use of nitisinone in alkaptonuria
por: Wolffenbuttel, Bruce H. R., et al.
Publicado: (2021)

The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background
por: Bruinenberg, Vibeke M., et al.
Publicado: (2016)

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
por: van Vliet, Kimber, et al.
Publicado: (2022)

Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria
por: Hughes, Juliette H., et al.
Publicado: (2020)

Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
por: Dijkstra, Allysa M., et al.
Publicado: (2023)

Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU)
por: Bruinenberg, Vibeke M., et al.
Publicado: (2019)

Exploring the therapeutic potential of modern and ancestral phenylalanine/tyrosine ammonia-lyases as supplementary treatment of hereditary tyrosinemia
por: Hendrikse, Natalie M., et al.
Publicado: (2020)

A Specific Nutrient Combination Attenuates the Reduced Expression of PSD-95 in the Proximal Dendrites of Hippocampal Cell Body Layers in a Mouse Model of Phenylketonuria
por: Bruinenberg, Vibeke M., et al.
Publicado: (2016)

Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis
por: de Groot, Martijn J, et al.
Publicado: (2013)

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
por: Anjema, Karen, et al.
Publicado: (2016)

Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation
por: Coene, Karlien L. M., et al.
Publicado: (2020)

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life
por: ten Hoedt, Amber E., et al.
Publicado: (2011)

Hepatorenal tyrosinemia
por: KITAGAWA, Teruo
Publicado: (2012)

Mild hyperphenylalaninemia: to treat or not to treat
por: van Spronsen, Francjan J.
Publicado: (2011)

The Effect of Glycomacropeptide versus Amino Acids on Phenylalanine and Tyrosine Variability over 24 Hours in Children with PKU: A Randomized Controlled Trial
por: Daly, Anne, et al.
Publicado: (2019)

Syndrome of hereditary tyrosinemia in mink
por: Christensen, K, et al.
Publicado: (1978)

Comment on Pancreatitis in Type 1 Tyrosinemia
por: Rahmoune, Hakim, et al.
Publicado: (2017)

Tyrosinemia type III in an asymptomatic girl
por: Szymanska, Edyta, et al.
Publicado: (2015)

Adenine base editing in an adult mouse model of tyrosinemia
por: Song, Chun-Qing, et al.
Publicado: (2019)

Hereditary Tyrosinemia Type 1 in Jordan: A Retrospective Study
por: Megdadi, Noor A., et al.
Publicado: (2021)

Presumptive tests.
por: Flamm, W G
Publicado: (1978)

Age dependency of plasma vitamin B12 status markers in Dutch children and adolescents
por: Heiner-Fokkema, M. Rebecca, et al.
Publicado: (2021)

High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial
por: ten Hoedt, Amber E., et al.
Publicado: (2010)

Neonatal hyperinsulinism in transient and classical forms of tyrosinemia
por: Sethuram, Swathi, et al.
Publicado: (2021)

Treatment adherence in tyrosinemia type 1 patients
por: González-Lamuño, Domingo, et al.
Publicado: (2021)

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
por: Veldman, Abigail, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_c8pf61oucbktuok7lk37lv8rpm