Rapid detection of PAH gene mutations in Chinese people

Phenylketonuria (PKU) is an autosomal recessive genetic disease, caused by the phenylalanine hydroxylase (PAH) deficiency in the metabolic pathway, which prevents phenylalanine from being converted into tyrosi...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Research article Source Type: research

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Condition:   Phenylketonuria Interventions:   Drug: CDX 6114;   Other: Matching Placebo Sponsor:   Nestlé Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in significant hyperphenylalaninemia, which leads to alterations in cerebral myelin and protein synthesis, as well as reduced levels of serotonin, dopamine, and noradrenaline in the brain. When untreated, brain development is grossly disrupted and significant intellectual impairment and behavioral disturbance occur. The advent of neonatal heel prick screening has allowed for diagnosis at birth, and the institution of a phenylalanine restricted diet. Dietary...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Human Gene Therapy, Ahead of Print.
Source: Human Gene Therapy - Category: Genetics & Stem Cells Authors: Source Type: research
Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown. The purpose of this study was to characterize the c...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
In conclusion, this study is the first to establish non-invasive prenatal diagnosis of PKU based on ddPCR. The method showed high sensitivity and specificity from cfDNA, indicating that ddPCR is a reliable non-invasive prenatal diagnosis tool for PKU diagnosis. Graphical abstract. PMID: 31485704 [PubMed - as supplied by publisher]
Source: Analytical and Bioanalytical Chemistry - Category: Chemistry Authors: Tags: Anal Bioanal Chem Source Type: research
ConclusionOur observations demonstrate the utility of population ‐specific allele frequency data to the diagnosis of monogenic disorders using high‐throughput technologies.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
ConclusionMost participants felt the burden of PKU on their daily lives, were dissatisfied with current treatments, and were willing to accept the risks of hypersensitivity reactions to achieve recommended blood Phe levels with pegvaliase treatment.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
Publication date: September 2019Source: Advances in Medical Sciences, Volume 64, Issue 2Author(s): Dariusz Walkowiak, Lukasz Kaluzny, Anna Bukowska-Posadzy, Mariusz Oltarzewski, Rafal Staszewski, Jerzy A. Moczko, Michal Musielak, Jaroslaw WalkowiakAbstractPurposeThis cohort study aimed to determine the frequency of overweight and obesity in classical phenylketonuria children and to identify the possible influence of metabolic control on the BMI of the studied patients.Patients and methodsThe study group included 63 classical phenylketonuria patients (40 girls and 23 boys; aged 5–16 years). Their z-score BMI, metaboli...
Source: Advances in Medical Sciences - Category: Biomedical Science Source Type: research
CONCLUSIONS: The data revealed that multiple metabolic pathways in cerebral cortices of PKU mice were disturbed, suggesting that the disturbances of the metabolic pathways might contribute to neurological or neurodevelopmental dysfunction in PKU, which could thus provide new insights into brain pathogenic mechanisms in PKU as well as mechanistic insights for better understanding the complexity of the metabolic mechanisms of the brain dysfunction in PKU. PMID: 31471952 [PubMed - as supplied by publisher]
Source: CNS Neuroscience and Therapeutics - Category: Neuroscience Authors: Tags: CNS Neurosci Ther Source Type: research
Abstract PURPOSE: This cohort study aimed to determine the frequency of overweight and obesity in classical phenylketonuria children and to identify the possible influence of metabolic control on the BMI of the studied patients. PATIENTS AND METHODS: The study group included 63 classical phenylketonuria patients (40 girls and 23 boys; aged 5-16 years). Their z-score BMI, metabolic control, educational level of parents and socioeconomic status were determined. RESULTS: Twenty children were overweight or obese and only three were underweight. The percentages of overweight and obese children were 31.7% for ...
Source: Advances in Medical Sciences - Category: Biomedical Science Authors: Tags: Adv Med Sci Source Type: research
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