Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuria.

ABSTRACT: To pave the way for healthy aging in early treated phenylketonuria (ETPKU) patients, a better understanding of the neurological course in this population is needed, requiring easy accessible biomarkers to monitor neurological disease progression in large cohorts. The objective of this pilot study was to investigate the potential of glial fibrillary acidic protein (GFAP) and neurofilament light chain (NfL) as blood biomarkers to indicate changes of the central nervous system in ETPKU. In this single-center cross-sectional study, GFAP and NfL concentrations in serum were quantified using the Simoa^® multiplex technology in 56 ETPKU patients aged 6-36 years and 16 age matched healthy controls. Correlation analysis and hierarchical linear regression analysis were performed to investi

SUBMITTER: Lotz-Havla AS 

PROVIDER: S-EPMC9559705 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature