Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses

MJ De Groot, M Hoeksma, N Blau, DJ Reijngoud… - Molecular Genetics and …, 2010 - Elsevier
In untreated phenylketonuria (PKU), deficiency of phenylalanine hydroxylase (PAH) results
in elevated blood phenylalanine (Phe) concentrations and severe mental retardation …

Genetic and biologic classification of infantile spasms

AR Paciorkowski, LL Thio, WB Dobyns - Pediatric neurology, 2011 - Elsevier
Infantile spasms constitute an age-dependent epilepsy, highly associated with cognitive
impairment, autism, and movement disorders. Previous classification systems focused on a …

Phenylketonuria and the brain

V Rovelli, N Longo - Molecular Genetics and Metabolism, 2023 - Elsevier
Classic phenylketonuria (PKU) is caused by defective activity of phenylalanine hydroxylase
(PAH), the enzyme that coverts phenylalanine (Phe) to tyrosine. Toxic accumulation of …

Neuropathological mechanisms of seizures in autism spectrum disorder

RE Frye, MF Casanova, SH Fatemi… - Frontiers in …, 2016 - frontiersin.org
This manuscript reviews biological abnormalities shared by autism spectrum disorder (ASD)
and epilepsy. Two neuropathological findings are shared by ASD and epilepsy …

Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause?

FJ Van Spronsen, M Hoeksma… - Journal of inherited …, 2009 - Springer
In phenylketonuria, mental retardation is prevented by a diet that severely restricts natural
protein and is supplemented with a phenylalanine-free amino acid mixture. The result is an …

The alphabet of intrinsic disorder: II. Various roles of glutamic acid in ordered and intrinsically disordered proteins

VN Uversky - Intrinsically disordered proteins, 2013 - Taylor & Francis
The ability of a protein to fold into unique functional state or to stay intrinsically disordered is
encoded in its amino acid sequence. Both ordered and intrinsically disordered proteins …

Large neutral amino acid supplementation exerts its effect through three synergistic mechanisms: proof of principle in phenylketonuria mice

D van Vliet, VM Bruinenberg, PN Mazzola… - PLoS …, 2015 - journals.plos.org
Background Phenylketonuria (PKU) was the first disorder in which severe neurocognitive
dysfunction could be prevented by dietary treatment. However, despite this effect …

Phenylalanine reduces synaptic density in mixed cortical cultures from mice

F Hörster, MA Schwab, SW Sauer, J Pietz… - Pediatric …, 2006 - nature.com
Classical phenylketonuria (PKU) is caused by deficiency of phenylalanine hydroxylase,
resulting in an accumulation of its upstream metabolite phenylalanine in brain tissue and …

Amino acid profiling and chemometric relations of black dwarf honey and bee pollen

SR Sommano, FM Bhat, M Wongkeaw… - Frontiers in …, 2020 - frontiersin.org
This research reports the characterization of bee pollen of Apis andreniformis colonies on
the basis of morphology, proximate composition, the amino acid, and nutritive patterns in …

Gender dimorphism in aspartame-induced impairment of spatial cognition and insulin sensitivity

KS Collison, NJ Makhoul, MZ Zaidi, SM Saleh… - PLoS …, 2012 - journals.plos.org
Previous studies have linked aspartame consumption to impaired retention of learned
behavior in rodents. Prenatal exposure to aspartame has also been shown to impair odor …