Genotype ‐phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil

ConclusionThe high discordance rate between genotype ‐predicted and observed metabolic phenotypes in this study seems to be due partially to the high frequency of the so‐called “moderate” common mutations, p.R261Q, p.V388M, and p.I65T, which are reported to be associated to erratic or more severe than expected metabolic phenotypes. Although ou r results of BH4 estimated responsiveness must be regarded as tentative, it should be emphasized that genotyping and genotype ‐phenotype association studies are important in selecting patients to be offered a BH4 overload test, especially in low ‐resource settings like Brazil.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

Related Links:

In this study, we evaluated the incidence and genetic characteristics of hyperphenylalaninemia (HPA) in Xiamen, China. We analyzed the newborn screening data of HPA, obtained using a fluorometric method and tandem mass spectrometry (MS/MS), from 2013 to 2017. The suspected positive samples were further diagnosed using MassArray technology, multiplex ligation-dependent probe amplification (MLPA), and Sanger sequencing. A total of 418,831 newborns were screened, of whom 19 were diagnosed as HPA patients, with an incidence of 1:22,044. Of these HPA patients, 15 tested positive for phenylketonuria (PKU, 1:27922), and 4 tested ...
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
Publication date: Available online 20 August 2019Source: Molecular Genetics and MetabolismAuthor(s): Geoffrey Y. Berguig, Nathan T. Martin, Athena Y. Creer, Ryan Murphy, Glenn Pacheco, Lin Xie, Lening Zhang, Sherry Bullens, Joy Olbertz, Haoling H. WengAbstractIn phenylketonuria (PKU), mutations of the phenylalanine hydroxylase (PAH) gene decrease the ability of PAH to convert phenylalanine (Phe) to tyrosine (Tyr) resulting in Phe accumulation in the blood and brain and disruption of neurotransmitter (NT) biosynthesis and metabolism. The following translational study explored the relationship between pegvaliase-mediated Phe...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
CONCLUSIONS: Antiviral treatment of neonates with congenital CMV infection and few symptoms including isolated hearing loss remains controversial. A generally accepted therapy, however, is pivotal before introducing universal or targeted screening for congenital CMV infection. PMID: 31426118 [PubMed - as supplied by publisher]
Source: Zeitschrift fur Geburtshilfe und Neonatologie - Category: Perinatology & Neonatology Authors: Tags: Z Geburtshilfe Neonatol Source Type: research
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
More News: Brazil Health | Databases & Libraries | Diets | Genetics | Nutrition | Phenylketonuria | Study