Results 11 to 20 of about 25,909 (224)
Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical Practice. [PDF]
JIMD RepABSTRACT Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH), leading to the accumulation of phenylalanine (Phe) and an increased risk of developmental disorders. Treatment involves a Phe‐restricted diet, amino acid supplements, and for a subset of patients, a tetrahydrobiopterin (BH4 ...
Lundkvist P +3 more
europepmc +2 more sources
Hepatology, EarlyView., 2022 Abstract Background and Aims Peroxisome proliferator‐activated receptor α (PPARα) regulates fatty acid transport and catabolism in liver. However, the role of intestinal PPARα in lipid homeostasis is largely unknown. Here, intestinal PPARα was examined for its modulation of obesity and NASH. Approach and Results Intestinal PPARα was activated and fatty
Tingting Yan +22 more
wiley +1 more source
Nutritional contents of low phenylalanine diets: A mini review
Пищевые системы, 2023 Increased interest in the utilization of nutrition management of patients with phenylketonuria is clear. Applications include a small measured amount of phenylalanine given in the form of exchange food, phenylalanine-free protein substitute and low ...
A. S. M. Ammar
doaj +1 more source
Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis [PDF]
Clinical and Experimental Pediatrics, 2020 Phenylketonuria is a disease caused by congenital defects in phenylalanine metabolism that leads to irreversible nerve cell damage. However, its detection in the early days of life can reduce its severity.
Hamid Reza Shoraka +4 more
doaj +1 more source
Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association? [PDF]
, 2014 Background Central precocious puberty (CPP) and phenylketonuria (PKU) are two rare conditions, the latter being the rarer. To date, only one case featuring both these conditions has been reported, and hyperphenylalaninemia was assumed triggering CPP.
Donaldson, Malcolm +3 more
core +3 more sources
Impact of phenylketonuria type meal on appetite, thermic effect of feeding and postprandial fat oxidation [PDF]
, 2018 Background: Dietary management of phenylketonuria (PKU) requires the replacement of natural protein-containing foods with special low protein foods.
Alfheeaid, Hani +5 more
core +1 more source
Data in Brief, 2017 This article provides original data on median dietary intake of 18 amino acids from amino acid medical foods, glycomacropeptide medical foods, and natural foods based on 3-day food records obtained from subjects with phenylketonuria who consumed low ...
Bridget M. Stroup +6 more
doaj +1 more source
Genotype-phenotype correlation in phenylketonuria [PDF]
Romanian Journal of Pediatrics, 2021 Introduction. Phenylketonuria is an inborn metabolism error with a high phenotypical variability, due in part to the large number of implicated genetical variants (over 1200 reported) but also due to other factors.
Alin Remus Iuhas +2 more
doaj +1 more source
The cardiovascular phenotype of adult patients with phenylketonuria [PDF]
, 2019 BACKGROUND: Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown.
Azabdaftari, Aline +5 more
core +1 more source
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test [PDF]
, 2018 : Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most frequent phenylalanine hydroxylase (PAH, Gene ID: 5053) mutations.
Antonio Angeloni +9 more
core +1 more source