A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Frontiers in Neuroscience Année : 2021

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

Colm Mcginnity
  • Fonction : Auteur
Daniela Riaño Barros
  • Fonction : Auteur
Nadine Girard
  • Fonction : Auteur
Christopher Symeon
  • Fonction : Auteur
Helen Walker
Sally Barrington
  • Fonction : Auteur
Mary Summers
  • Fonction : Auteur
Mervi Pitkanen
  • Fonction : Auteur
Yusof Rahman
  • Fonction : Auteur

Résumé

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.

Dates et versions

hal-03364112 , version 1 (04-10-2021)

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Citer

Colm Mcginnity, Daniela Riaño Barros, Eric Guedj, Nadine Girard, Christopher Symeon, et al.. A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia. Frontiers in Neuroscience, 2021, 15, ⟨10.3389/fnins.2021.664525⟩. ⟨hal-03364112⟩
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