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

ABSTRACT: 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 [¹⁸F]fluorodeoxyglucose positron emission tomography ([¹⁸F]FDG PET). The Phe:Tyr ratio was calculated for individual blood samples and summarized as hi

SUBMITTER: McGinnity CJ 

PROVIDER: S-EPMC8248344 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature