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A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia

We retrospectively examined the relationship between blood biomarkers, in particular the historical mean phenylalanine to tyrosine (Phe:Tyr) ratio, and cerebral glucose metabolism. We hypothesized that the historical mean Phe:Tyr ratio would be more predictive of cerebral glucose metabolism than the...

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Autores principales: McGinnity, Colm J., Riaño Barros, Daniela A., Guedj, Eric, Girard, Nadine, Symeon, Christopher, Walker, Helen, Barrington, Sally F., Summers, Mary, Pitkanen, Mervi, Rahman, Yusof
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8248344/
https://www.ncbi.nlm.nih.gov/pubmed/34220424
http://dx.doi.org/10.3389/fnins.2021.664525
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author McGinnity, Colm J.
Riaño Barros, Daniela A.
Guedj, Eric
Girard, Nadine
Symeon, Christopher
Walker, Helen
Barrington, Sally F.
Summers, Mary
Pitkanen, Mervi
Rahman, Yusof
author_facet McGinnity, Colm J.
Riaño Barros, Daniela A.
Guedj, Eric
Girard, Nadine
Symeon, Christopher
Walker, Helen
Barrington, Sally F.
Summers, Mary
Pitkanen, Mervi
Rahman, Yusof
author_sort McGinnity, Colm J.
collection PubMed
description We retrospectively examined the relationship between blood biomarkers, in particular the historical mean phenylalanine to tyrosine (Phe:Tyr) ratio, and cerebral glucose metabolism. We hypothesized that the historical mean Phe:Tyr ratio would be more predictive of cerebral glucose metabolism than the phenylalanine (Phe) level alone. We performed a retrospective case series analysis involving 11 adult classical phenylketonuria/hyperphenylalaninemia patients under the care of an Inherited Metabolic & Neuropsychiatry Clinic who had complained of memory problems, collating casenote data from blood biochemistry, and clinical [(18)F]fluorodeoxyglucose positron emission tomography ([(18)F]FDG PET). The Phe:Tyr ratio was calculated for individual blood samples and summarized as historical mean Phe:Tyr ratio (Phe:Tyr) and historical standard deviation in Phe:Tyr ratio (SD-Phe:Tyr), for each patient. Visual analyses of [(18)F]FDG PET revealed heterogeneous patterns of glucose hypometabolism for eight patients. [(18)F]FDG PET standardized uptake was negatively correlated with Phe in a large cluster with peak localized to right superior parietal gyrus. Even larger clusters of negative correlation that encompassed most of the brain, with frontal peaks, were observed with Phe:Tyr, and SD-Phe:Tyr. Our case series analysis provides further evidence for the association between blood biomarkers, and cerebral glucose hypometabolism. Mean historical blood Phe:Tyr ratio, and its standard deviation over time, appear to be more indicative of global cerebral glucose metabolism in patients with memory problems than Phe.
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spelling pubmed-82483442021-07-02 A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia McGinnity, Colm J. Riaño Barros, Daniela A. Guedj, Eric Girard, Nadine Symeon, Christopher Walker, Helen Barrington, Sally F. Summers, Mary Pitkanen, Mervi Rahman, Yusof Front Neurosci Neuroscience We retrospectively examined the relationship between blood biomarkers, in particular the historical mean phenylalanine to tyrosine (Phe:Tyr) ratio, and cerebral glucose metabolism. We hypothesized that the historical mean Phe:Tyr ratio would be more predictive of cerebral glucose metabolism than the phenylalanine (Phe) level alone. We performed a retrospective case series analysis involving 11 adult classical phenylketonuria/hyperphenylalaninemia patients under the care of an Inherited Metabolic & Neuropsychiatry Clinic who had complained of memory problems, collating casenote data from blood biochemistry, and clinical [(18)F]fluorodeoxyglucose positron emission tomography ([(18)F]FDG PET). The Phe:Tyr ratio was calculated for individual blood samples and summarized as historical mean Phe:Tyr ratio (Phe:Tyr) and historical standard deviation in Phe:Tyr ratio (SD-Phe:Tyr), for each patient. Visual analyses of [(18)F]FDG PET revealed heterogeneous patterns of glucose hypometabolism for eight patients. [(18)F]FDG PET standardized uptake was negatively correlated with Phe in a large cluster with peak localized to right superior parietal gyrus. Even larger clusters of negative correlation that encompassed most of the brain, with frontal peaks, were observed with Phe:Tyr, and SD-Phe:Tyr. Our case series analysis provides further evidence for the association between blood biomarkers, and cerebral glucose hypometabolism. Mean historical blood Phe:Tyr ratio, and its standard deviation over time, appear to be more indicative of global cerebral glucose metabolism in patients with memory problems than Phe. Frontiers Media S.A. 2021-06-17 /pmc/articles/PMC8248344/ /pubmed/34220424 http://dx.doi.org/10.3389/fnins.2021.664525 Text en Copyright © 2021 McGinnity, Riaño Barros, Guedj, Girard, Symeon, Walker, Barrington, Summers, Pitkanen and Rahman. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
McGinnity, Colm J.
Riaño Barros, Daniela A.
Guedj, Eric
Girard, Nadine
Symeon, Christopher
Walker, Helen
Barrington, Sally F.
Summers, Mary
Pitkanen, Mervi
Rahman, Yusof
A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia
title A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia
title_full A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia
title_fullStr A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia
title_full_unstemmed A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia
title_short A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia
title_sort retrospective case series analysis of the relationship between phenylalanine: tyrosine ratio and cerebral glucose metabolism in classical phenylketonuria and hyperphenylalaninemia
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8248344/
https://www.ncbi.nlm.nih.gov/pubmed/34220424
http://dx.doi.org/10.3389/fnins.2021.664525
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