Phenylketonuric Diet Negatively Impacts On Butyrate Production

Phenylalanine (Phe) restricted diet, combined with Phe-free L-amino acid supplementation, is the mainstay of treatment for phenylketonuria (PKU). Being the diet a key factor modulating gut microbiota composition, the aim of the present paper was to compare dietary intakes, gut microbiota biodiversity and short chain fatty acids (SCFAs) production in children with PKU, on low-Phe diet, and in children with mild hyperphenylalaninemia (MHP), on unrestricted diet.
Source: Nutrition, Metabolism, and Cardiovascular Diseases : NMCD - Category: Nutrition Authors: Source Type: research

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Publication date: Available online 10 December 2019Source: Molecular Genetics and MetabolismAuthor(s): Harvey Levy, Diana Lamppu, Vera Anastosoaie, Jennifer L. Baker, Kevin DiBona, Sarah Hawthorne, Jessica Lindenberger, Deborah Kinch, Albert Seymour, Mark McIlduff, Sharon Watling, Jerry VockleyAbstractBackgroundPhenylketonuria (PKU) is an autosomal recessive disease caused by mutations in the PAH gene, resulting in deficiency of phenylalanine hydroxylase (PAH), an enzyme that converts phenylalanine (Phe) to tyrosine (Tyr). The purpose of this study was to capture real-world data associated with managing PKU under current s...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Authors: Kong SW, Hernandez-Ferrer C Abstract Physiological status and pathological changes in an individual can be captured by metabolic state that reflects the influence of both genetic variants and environmental factors such as diet, lifestyle and gut microbiome. The totality of environmental exposure throughout lifetime - i.e., exposome - is difficult to measure with current technologies. However, targeted measurement of exogenous chemicals and untargeted profiling of endogenous metabolites have been widely used to discover biomarkers of pathophysiologic changes and to understand functional impacts of genetic v...
Source: Pacific Symposium on Biocomputing - Category: Bioinformatics Tags: Pac Symp Biocomput Source Type: research
Abstract DT-Diaphorase (DTD) belonging to the oxidoreductase family, is among the most important enzymes and is of great significance in present-day biotechnology. Also, it has potential applications in glucose and pyruvate biosensors. Another important role of the DTD enzyme is in the detection of Phenylketonuria disease. According to the above demands, at first, we tried to study molecular cloning and production of recombinant DTD in E. coli BL21 strain. We have successfully cloned, expressed, and purified functionally active diaphorase. The amount of enzyme was increased in 10-h using IPTG induction, and the re...
Source: International Journal of Biological Macromolecules - Category: Biochemistry Authors: Tags: Int J Biol Macromol Source Type: research
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Source: Journal of Clinical and Experimental Neuropsychology - Category: Psychiatry & Psychology Authors: Source Type: research
The objective was to deepen the understanding of the causes of individual variability in phenylketonuria (PKU) by investigating which metabolic variables are most important for predicting cognitive outcomes (P...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Abstract Phenylketonuria (PKU) is an autosomal recessive metabolic disorder characterized by an inability to metabolize the amino acid phenylalanine (Phe). If left untreated, an accumulation of Phe results in neurodevelopmental, neurological and psychological impairments. Advancements in detection and treatment of PKU have improved outcomes and life expectancy for these patients, emphasizing the need for life-long, specialized care. Due to the paucity of adult-focused PKU clinics, patients who are well into adulthood are still being treated in pediatric centers. This retrospective study evaluates the perceived exp...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
AbstractPhenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Usually diagnosed within the first month of birth, it is essential that the patient strictly follow the dietary restriction of natural protein intake. Otherwise, PKU impacts the development of the brain severely and may result in microcephaly, epilepsy, motor deficits, intellectual disability, and psychiatric and behavioral disorders. The neuropathology associated with PKU includes defects of myelination, insufficient synthesis of monoamine neurotransmitters, amino acid imbalance across the blood-brain barrier, and involves intermediary...
Source: Metabolic Brain Disease - Category: Neurology Source Type: research
This study presents further research into the spectrum of variants in genes responsible for the development of phenylketonuria (PKU) and hyperphenylalaninemia (HPA) in patients in Russia. After a study of 25 frequent variants, 293 patients (327 chromosomes without detected variants) from among 1265 probands still had no confirmed diagnosis. A study involving methods of next generation sequencing (NGS) ofPAH,PTS,GCH1,PCBD1,QDPR,SPR andDNAJC12 genes to search for point mutations and multiplex ligation-dependent probe amplification (MLPA) methods to search for gross deletions were conducted for these patients. Among 327 chrom...
Source: Metabolic Brain Disease - Category: Neurology Source Type: research
ConclusionNeurological manifestations can complicate PKU in adult patients with elevated phenylalanine levels, after long or short period of diet discontinuation. Neurologists should be aware of this diagnosis, and measure phenylalaninemia in case of neurological symptoms associated with non-specific leucopathy on brain MRI. PKU patients should be systematically encouraged to continue their diet and their medical follow-up to avoid neurological complications.
Source: Journal of Neurology - Category: Neurology Source Type: research
We report the first Japanese case of maternal PKU treated with SD. The patient was administered SD at 10–20 mg/kg/day, which increased phenylalanine tolerance during the pregnancy and lactation. No adverse events occurred, and she delivered a healthy neonate. Normal growth and development of the child confirms the efficacy and safety of SD.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
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