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Galactosemia

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https://www.readbyqxmd.com/read/29759178/one-pot-synthesis-of-the-stable-cdzntes-quantum-dots-for-the-rapid-and-sensitive-detection-of-copper-activated-enzyme
#1
Guobin Mao, Chen Liu, Mingyuan Du, Yuwei Zhang, Xinghu Ji, Zhike He
Galactose oxidase is a copper-activated enzyme and have a vital role in metabolism of galactose. Much of the work is focused on determining the amount of galactose in the blood rather than measuring the amount of galactose oxidase to urge the galactosemia patients to restrict milk intake. Here, a simple and effective method was developed for Cu2+ and copper-activated enzyme detection based on homogenous alloyed CdZnTeS quantum dots (QDs). Meso- 2,3-dimercaptosuccinic acid (DMSA) was used as the reducing agent for preparing QDs and the highest quantum yield of CdZnTeS QDs was 69...
August 1, 2018: Talanta
https://www.readbyqxmd.com/read/29721917/presentation-progression-and-predictors-of-ovarian-insufficiency-in-classic-galactosemia
#2
Allison B Frederick, Alison M Zinsli, Grace Carlock, Karen Conneely, Judith L Fridovich-Keil
Classic galactosemia (CG) is an inherited metabolic disorder that affects about 1 in 50,000 live births in the United States and many other countries. With the benefit of early detection by newborn screening and rapid dietary restriction of galactose, generally achieved by removing dairy from the diet, most affected infants are spared the acute and potentially lethal symptoms of disease. Despite early detection and life-long dietary intervention, however, most patients grow to experience a constellation of long-term complications that include premature ovarian insufficiency in the vast majority of girls and young women...
May 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29680633/multiplex-tandem-mass-spectrometry-assay-for-newborn-screening-of-x-linked-adrenoleukodystrophy-biotinidase-deficiency-and-galactosemia-with-flexibility-to-assay-other-enzyme-assays-and-biomarkers
#3
Xinying Hong, Arun Babu Kumar, C Ronald Scott, Michael H Gelb
All States screen for biotinidase deficiency and galactosemia, and X-linked adrenoleukodystrophy (X-ALD) has recently been added to the Recommended Uniform Screening Panel (RUSP).We sought to consolidate these tests by combining them into a single multiplex tandem mass spectrometry assay as well as to improve the current protocol for newborn screening of galactosemia.A 3 mm punch of a dried blood spot (DBS) was extracted with organic solvent for analysis of the C26:0-lysophosphatidylcholine biomarker for X-ALD...
March 29, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29671189/intrafamilial-oocyte-donation-in-classic-galactosemia-ethical-and-societal-aspects
#4
M Haskovic, W J Poot, R J T van Golde, S H Benneheij, E Oussoren, G M W R de Wert, A Krumeich, M Estela Rubio-Gozalbo
Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% of female patients and is an important concern for patients and their parents. Healthcare providers are often consulted for subfertility treatment possibilities. An option brought up by the families is intrafamilial oocyte donation (mother-to-daughter or sister-to-sister). In addition to POI, galactosemia patients can also present varying cognitive and neurological impairments, which may not be fully clear at the time when mother-to-daughter oocyte donation is considered...
April 18, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29653003/-diagnosis-of-two-neonates-with-galactosemia-by-using-next-generation-sequencing
#5
Haiyan Zhang, Dong Chen, Chen Liu, Xingfeng Liu, Zhongtao Gai, Yi Liu
OBJECTIVE: To explore the genetic basis of two neonates suspected for galactosemia. METHODS: Next generation sequencing(NGS) was used to screen the whole exome of the neonates. Suspected mutation was validated by PCR and Sanger sequencing. Potential impact of novel mutation was predicted by using PolyPhen-2, MutationTaste and SIFT software. RESULTS: Both neonates harbored compound heterozygous mutations of the GALT gene inherited from their parents...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29580649/recommendations-for-newborn-screening-for-galactokinase-deficiency-a-systematic-review-and-evaluation-of-dutch-newborn-screening-data
#6
Kevin Stroek, Marelle J Bouva, Peter C J I Schielen, Frédéric M Vaz, Annemieke C Heijboer, Robert de Jonge, Anita Boelen, Annet M Bosch
INTRODUCTION: Galactokinase (GALK) deficiency causes cataract leading to severe developmental consequences unless treated early. Because of the easy prevention and rapid reversibility of cataract with treatment, the Dutch Health Council advised to include GALK deficiency in the Dutch newborn screening program. The aim of this study is to establish the optimal screening method and cut-off value (COV) for GALK deficiency screening by performing a systematic review of the literature of screening strategies and total galactose (TGAL) values and by evaluating TGAL values in the first week of life in a cohort of screened newborns in the Netherlands...
March 21, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29505688/improving-the-activity-and-stability-of-human-galactokinase-for-therapeutic-and-biotechnological-applications
#7
Margaret McAuley, Noel Mesa-Torres, Aisling McFall, Sarah Morris, Meilan Huang, Angel L Pey, David J Timson
Galactokinase catalyses the site- and stereospecific phosphorylation of α-d-galactose. As such it has attracted interest as a biocatalyst for the introduction of phosphate groups into monosaccharides. However, attempts to broaden the substrate range of human galactokinase have generally resulted in substantially reduced activity. The enzyme also has biotechnological potential in enzyme replacement therapy (ERT) for type II galactosaemia. The return-to-consensus approach can be used to identify residues that can be altered to increase protein stability and enzyme activity...
March 5, 2018: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/29502917/inborn-errors-of-metabolism-with-hepatopathy-metabolism-defects-of-galactose-fructose-and-tyrosine
#8
REVIEW
Didem Demirbas, William J Brucker, Gerard T Berry
The liver is one of the most essential organs in metabolism and is responsible for metabolizing a wide variety of molecules from amino acids to sugars. Although it is responsible for many essential metabolic processes, it is one of the most severely affected by metabolic disease because, in many cases, it is the first to be exposed to the toxic intermediates. The metabolism of galactose, fructose, and tyrosine involve the liver and although there are systemic findings in metabolic disease involved with these substrates, severe hepatopathy is a common presenting aspect of galactosemia, hereditary fructose intolerance, and tyrosinemia type I...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29445937/secondary-hemophagocytic-syndrome-associated-with-cog6-gene-defect-report-and-review
#9
Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, Majid Alfadhel
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency...
February 15, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29409891/hereditary-galactosemia
#10
REVIEW
Didem Demirbas, Ana I Coelho, M Estrela Rubio-Gozalbo, Gerard T Berry
Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal recessive manner. The common and severe GALT deficiency, or classic galactosemia, is life-threatening in the newborn period. The treatment for classic galactosemia is dietary restriction of lactose. Although implementation of lactose restricted diet is efficient in resolving the acute complications, it is not sufficient to prevent long-term complications affecting the brain and female gonads, the two main target organs of damage...
January 30, 2018: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29350350/biochemical-changes-and-clinical-outcomes-in-34-patients-with-classic-galactosemia
#11
Tatiana Yuzyuk, Krista Viau, Ashley Andrews, Marzia Pasquali, Nicola Longo
Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes galactosemia, an autosomal recessive disorder of galactose metabolism. Early initiation of a galactose-restricted diet can prevent or resolve neonatal complications. Despite therapy, patients often experience long-term complications including speech impairment, learning disabilities, and premature ovarian insufficiency in females. This study evaluates clinical outcomes in 34 galactosemia patients with markedly reduced GALT activity and compares outcomes between patients with different levels of mean galactose-1-phosphate in red blood cells (GAL1P) using logistic regression: group 1 (n = 13) GAL1P ≤1...
March 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29261178/laboratory-diagnosis-of-galactosemia-a-technical-standard-and-guideline-of-the-american-college-of-medical-genetics-and-genomics-acmg
#12
Marzia Pasquali, Chunli Yu, Bradford Coffee
Disclaimer: These ACMG Standards and Guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards and Guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results...
January 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29215431/galt-deficiency-galactosemia
#13
(no author information available yet)
No abstract text is available yet for this article.
January 2018: MCN. the American Journal of Maternal Child Nursing
https://www.readbyqxmd.com/read/29215423/galt-deficiency-galactosemia
#14
Sharon Anderson
Galactosemia is an inborn error of galactose metabolism that results from a deficiency in one of three enzymes, uridine diphosphate galactose 4'epimerase, galactokinase, or galactose-1-phosphate uridyltransferase (GALT). This article focuses on classical, clinical variant, and biochemical variant (Duarte) galactosemias caused by GALT enzyme deficiency. A brief overview of galactosemia and newborn screening is presented, followed by detailed information about each of the conditions. Confirmatory testing, acute and long-term management, and outcome for these galactosemia types are discussed as well as the importance of genetic counseling and testing for the infant and family to refine reproductive risk...
January 2018: MCN. the American Journal of Maternal Child Nursing
https://www.readbyqxmd.com/read/29153024/-diet-treatment-of-classical-galactosemia
#15
REVIEW
Erika Kiss, Lídia Balogh, Péter Reismann
Classical galactosemia is an inherited disorder of the carbohydrate metabolism, most often caused by the deficient activity of the enzyme galactose-1-phosphate-uridyltransferase. Classical galactosemia presents in the neonatal period with life threatening illness after galactose is introduced in the diet. Symptoms and signs include poor feeding, vomiting, and diarrhea, weight loss, jaundice, hypotension, cataracts, hepatosplenomegaly, hepatocellular insufficiency, and encephalopathy. Since 1975 the testing for galactosemia is part of the neonatal screening program in Hungary...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29082628/simultaneous-analysis-of-carbohydrates-polyols-and-amines-in-urine-samples-using-chemical-ionization-gas-chromatography-with-tandem-mass-spectrometry
#16
Róbert Kubinec, Peter Kotora, Viktória Ferenczy, Jaroslav Blaško, Peter Podolec, Alexandra Hengerics Szabó, Darina Behúlová, Václav Bierhanzl, Radomír Čabala, Stanislav Stuchlík, Wojciech Filipiak, Ngô Mạnh Thắng
A simple method for the simultaneous derivatization of carbohydrates, polyols, amines and amino acids using hexamethyldisilazane and N,O-bis(trimethylsilyl)trifluoroacetamide was developed. This method allows the direct derivatization of urine samples without sample pretreatment before derivatization. The method was successfully used for analysis of the selected metabolites in urine samples of healthy individuals and neonates suffering from galactosemia. The limits of detection by positive chemical ionization gas chromatography with tandem mass spectrometry analysis were in the range of 1...
January 2018: Journal of Separation Science
https://www.readbyqxmd.com/read/29082548/letter-to-the-editor-on-evidence-for-dopaminergic-denervation-in-classical-galactosemia
#17
Mihaela Boca, Alan Whone
No abstract text is available yet for this article.
December 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28971364/genetic-testing-in-pediatric-ophthalmology
#18
REVIEW
Ishwar Chander Verma, Preeti Paliwal, Kanika Singh
The authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling, prenatal diagnosis, and entry into gene-specific therapeutic trials. The prerequisites for a successful outcome of a genetic test are an accurate clinical diagnosis, a careful family history that guides which genes to study, and genetic counseling (both pre-test and post-test). The common eye disorders for which genetic testing is commonly requested are briefly discussed - anophthalmia, microphthalmia, coloboma, anterior segment dysgenesis, corneal dystrophies, cataracts, optic atrophy, congenital glaucoma, congenital amaurosis, retinitis pigmentosa, color blindness, juvenile retinoshisis, retinoblastoma etc...
March 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28961353/the-evolution-of-a-web-resource-the-galactosemia-proteins-database-2-0
#19
Antonio d'Acierno, Bernardina Scafuri, Angelo Facchiano, Anna Marabotti
Galactosemia Proteins Database 2.0 is a Web-accessible resource collecting information about the structural and functional effects of the known variations associated to the three different enzymes of the Leloir pathway encoded by the genes GALT, GALE, and GALK1 and involved in the different forms of the genetic disease globally called "galactosemia." It represents an evolution of two available online resources we previously developed, with new data deriving from new structures, new analysis tools, and new interfaces and filters in order to improve the quality and quantity of information available for different categories of users...
January 2018: Human Mutation
https://www.readbyqxmd.com/read/28932969/primary-ovarian-insufficiency-in-classic-galactosemia-current-understanding-and-future-research-opportunities
#20
REVIEW
Mili Thakur, Gerald Feldman, Elizabeth E Puscheck
Classic galactosemia is an inborn error of the metabolism with devastating consequences. Newborn screening has been successful in markedly reducing the acute neonatal symptoms from this disorder. The dramatic response to dietary treatment is one of the major success stories of newborn screening. However, as children with galactosemia achieve adulthood, they face long-term complications. A majority of women with classic galactosemia develop primary ovarian insufficiency and resulting morbidity. The underlying pathophysiology of this complication is not clear...
January 2018: Journal of Assisted Reproduction and Genetics
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