Benchmark Examination of Blood Amino Acids Patterns in Phenylketonuria Neonates and Young Children on Phenylalanine-Restricted Dietary Treatment.

Fetal and Pediatric Pathology
Zhihui WanZheng Cao

Abstract

Phenylalanine-restricted diets have been the basis of therapy for phenylketonuria; however, little is known how this treatment effects homeostasis of other amino acids. This study aimed to assess blood amino acid alterations in phenylketonuric neonates before and after treatment to identify any residual amino acid alterations with phenylalanine restriction in these treated children. Methods: Concentrations of 11 amino acids were measured using liquid chromatography-tandem mass spectrometry performed on dried blood spots. Results: Elevated blood phenylalanine, arginine, citrulline, valine, methionine concentrations and decreased tyrosine, proline concentrations were observed in phenylketonuria neonates relative to controls, of which phenylalanine, arginine, methionine, tyrosine, and proline levels could be either partially or completely restored with dietary intervention, whereas citrulline and valine were not restored and remained higher. Conclusions: Blood amino acid homeostasis is disrupted in phenylketonuria. Although dietary intervention adjusts amino acid homeostasis in the direction of a healthy equilibrium, complete restoration is not achieved.

References

Sep 1, 1980·Journal of Mental Deficiency Research·O E Pratt
Mar 29, 2000·The Journal of Nutrition·Q R Smith
Apr 20, 2007·Human Mutation·Charles R Scriver
Feb 5, 2009·Journal of Inherited Metabolic Disease·F J van SpronsenDirk-Jan Reijngoud
Oct 26, 2010·Lancet·Nenad BlauHarvey L Levy
Jan 11, 2011·Molecular Genetics and Metabolism·Louis J ElsasAndrea Wierenga
Aug 9, 2011·Molecular Genetics and Metabolism·María J GonzálezJaume Campistol
Sep 29, 2011·Molecular Genetics and Metabolism·A MacDonaldF Feillet
Oct 25, 2011·Molecular Genetics and Metabolism·M DemirkolJ Walter
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
Feb 3, 2016·Translational Pediatrics·Naz Al Hafid, John Christodoulou
Nov 3, 2016·The American Journal of Clinical Nutrition·Danique van VlietFrancjan J van Spronsen
Jan 14, 2017·The Lancet. Diabetes & Endocrinology·Francjan J van SpronsenAnita MacDonald
Dec 30, 2017·Cellular and Molecular Neurobiology·Burcu KumruHakim Celik

❮ 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.

Related Papers

Journal of Inherited Metabolic Disease
P C ClemensC Plettner
Nature Reviews. Endocrinology
Francjan J van Spronsen
Annales de pédiatrie
J P Farriaux, G Fontaine
Journal of the American Dietetic Association
H K BERRYB K Sutherland
© 2021 Meta ULC. All rights reserved