Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran

Conclusions:The high frequency of c.1066 ‑11G>A mutation in Golestan province may be related to genetic drift, founder effect, and consanguinity.Keywords:Mutation, phenylalanine hydroxylase, phenylketonuria
Source: International Journal of Preventive Medicine - Category: International Medicine & Public Health Source Type: research

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Abstract Phenylketonuria (PKU) is a metabolic disorder accumulating phenylalanine (Phe) and its metabolites in plasma and tissues of the patients. Regardless of the mechanisms, which Phe causes brain impairment, are poorly understood, energy deficit may have linked to the neurotoxicity in PKU. It is widely recognized that creatine is involved in maintaining of cerebral energy homeostasis. Because of this, in a previous work, we incorporated it into liposomes and this increased the concentration of creatine in the cerebral cortex. Here, we examined the effect of creatine nanoliposomes on parameters of oxidative str...
Source: Molecular Biology Reports - Category: Molecular Biology Authors: Tags: Mol Biol Rep Source Type: research
Publication date: Available online 7 August 2019Source: Molecular Genetics and MetabolismAuthor(s): Roberto Zori, Kirsten Ahring, Barbara Burton, Gregory M. Pastores, Frank Rutsch, Ashok Jha, Elaina Jurecki, Richard Rowell, Cary HardingAbstractPhenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) deficiency, resulting in high blood and brain Phenylalanine (Phe) concentrations that can lead to impaired brain development and function. Standard treatment involves a Phe-restricted diet alone or in conjunction with sapropterin dihydrochloride in responsive patients. The Food and Drug Administration approved pegvali...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
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
Authors: Altimimi HA, Aljawadi HF, Ali EA Abstract Objectives: We sought to determine the prevalence of inborn errors of metabolism (IEM) in children with unexplained developmental delay and their types. Methods: We conducted a cross-sectional study in Misan, Iraq, over a period of one year. A total of 112 infants with unexplained developmental delay were included in the study, and the required information was taken from their parents by direct interview. Tandem mass spectrometry (MS/MS) was done in collaboration with MedLabs' Referral Laboratory in Amman, Jordan. Results: Twenty (17.9%) cases had abnormal ...
Source: Oman Medical Journal - Category: Middle East Health Tags: Oman Med J Source Type: research
Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizur...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Robert Guthrie's blood test for the metabolic disorder phenylketonuria launched a worldwide movement to screen every baby for the disease soon after birth.
Source: The Scientist - Category: Science Tags: Foundations Magazine Issue Source Type: news
CONCLUSIONS: The newly cSMART assay demonstrated high accuracy for correctly calling fetal genotypes. We propose that this test has useful clinical utility for rapid screening of high-risk and low-risk pregnancies with a known history of PKU on one or both sides of the family. This article is protected by copyright. All rights reserved. PMID: 31295388 [PubMed - as supplied by publisher]
Source: BJOG : An International Journal of Obstetrics and Gynaecology - Category: OBGYN Authors: Tags: BJOG Source Type: research
After decades of yearning for drugs, people with PKU now have 2, and a dozen more are in development
Source: Chemical and Engineering News - Category: Chemistry Authors: Source Type: research
Publication date: Available online 2 July 2019Source: NeuroImage: ClinicalAuthor(s): Zoë Hawks, Anna M. Hood, Dov B. Lerman-Sinkoff, Joshua S. Shimony, Jerrel Rutlin, Daniel Lagoni, Dorothy K. Grange, Desirée A. WhiteAbstractPhenylketonuria (PKU) is a recessive disorder characterized by disruption in the metabolism of the amino acid phenylalanine (Phe). Prior research indicates that individuals with PKU have substantial white matter (WM) compromise. Much less is known about gray matter (GM) in PKU, but a small body of research suggests volumetric differences compared to controls. To date, developmental trajecto...
Source: NeuroImage: Clinical - Category: Radiology Source Type: research
PMID: 31283384 [PubMed - in process]
Source: British Journal of Hospital Medicine - Category: Internal Medicine Authors: Tags: Br J Hosp Med (Lond) Source Type: research
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