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Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation.
Neurobiol Dis
May 2023
Department of Biomolecular Sciences, University of Urbino "Carlo Bo", via Saffi 2, 61029 Urbino, PU, Italy; EryDel SpA, via Antonio Meucci 3, 20091 Bresso, Milan, Italy.
Untreated phenylketonuria (PKU) patients and PKU animal models show hypomyelination in the central nervous system and white matter damages, which are accompanied by myelin basic protein (MBP) impairment. Despite many assumptions, the primary explanation of the mentioned cerebral outcomes remains elusive. In this study, MBP protein and mRNA expression on brains of wild type (WT) and phenylketonuric (ENU2) mice were analyzed throughout mice lifespan (14-60-180-270-360-540 post-natal days, PND).
View Article and Find Full Text PDFStudying the effect of large neutral amino acid supplements on oxidative stress in phenylketonuric patients.
J Pediatr Endocrinol Metab
March 2019
Division of Physiology, Harran University, Sanlıurfa, Turkey.
Background Oxidative stress may be one of the causes responsible for mental retardation in phenylketonuria (PKU) patients. Phenylalanine (Phe) reduces antioxidant defense and promotes oxidative stress by causing increase in reactive oxygen-nitrogen species. Our study aimed to investigate the effect of different treatments (amino acid mixture/large neutral amino acid [LNAA] supplements) on oxidative stress which are applied to late-diagnosed patients.
View Article and Find Full Text PDFPlasma coenzyme Q status is impaired in selected genetic conditions.
Sci Rep
January 2019
Inborn errors of metabolism Unit, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Identifying diseases displaying chronic low plasma Coenzyme Q (CoQ) values may be important to prevent possible cardiovascular dysfunction. The aim of this study was to retrospectively evaluate plasma CoQ concentrations in a large cohort of pediatric and young adult patients. We evaluated plasma CoQ values in 597 individuals (age range 1 month to 43 years, average 11 years), studied during the period 2005-2016.
View Article and Find Full Text PDFWhite matter microstructural damage in early treated phenylketonuric patients.
Orphanet J Rare Dis
October 2018
Neuropediatric Department, PKU Follow Up Unit, Hospital Sant Joan de Déu (HSJD), Institut de Recerca Sant Joan de Deu (IRSJD), Passeig Sant Joan de Deu 2, Postal code, 08950, Barcelona, Spain.
Background: Despite dietary intervention, individuals with early treated phenylketonuria (ETPKU) could present neurocognitive deficits and white matter (WM) abnormalities. The aim of the present study was to evaluate the microstructural integrity of WM pathways across the whole brain in a cohort of paediatric ETPKU patients compared with healthy controls (HCs), by collecting DTI-MRI (diffusion tensor magnetic resonance imaging) data and diffusion values (mean diffusivity (MD), radial diffusivity (RD) and fractional anisotropy (FA)).
Methods: DTI-MRI data and diffusion values (MD, RD, FA) from WM tracts across the whole brain were analized using Tract Based Spatial Statistics (TBSS), in 15 paediatrics TPKU patients (median age: 12 years) and compared with 11 HCs.
Newly validated biomarkers of brain damage may shed light into the role of oxidative stress in the pathophysiology of neurocognitive impairment in dietary restricted phenylketonuria patients.
Pediatr Res
January 2019
Neonatal Research Group, Health Research Institute La Fe, Valencia, Spain.
Despite a strict dietary control, patient with hyperphenylalaninemia or phenylketonuria may show cognitive and/or behavioral disorders. These comorbid deficits are of great concern to patients, families, and health organizations. However, biomarkers capable of detecting initial stages of neurological damage are not commonly employed.
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