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Galactosemia

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https://www.readbyqxmd.com/read/28411097/-acute-liver-failure-related-to-inherited-metabolic-diseases-in-young-children
#1
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto
INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving. OBJECTIVE: To describe clinical presentation, investigation and outcomes of ALF related to IMD in young children. MATERIAL AND METHODS: Retrospective review of the medical records of children aged up to 24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-year period, fulfilling the ALF criteria, with documented metabolic etiology...
April 11, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28391442/systematic-review-and-meta-analysis-of-intelligence-quotient-in-early-treated-individuals-with-classical-galactosemia
#2
Lindsey Welling, Susan E Waisbren, Kevin M Antshel, Hugh-Owen Colhoun, Matthias Gautschi, Stephanie Grünewald, Rebecca Holman, Johanna H van der Lee, Eileen P Treacy, Annet M Bosch
INTRODUCTION: Cognitive impairment is a well-known complication of classical galactosemia (CG). Differences in patient characteristics and test methods have hampered final conclusions regarding the extent of intellectual disabilities in CG. The primary aim of this systematic review was to assess intellectual performance in early-treated (≤4 weeks of life) individuals with confirmed CG (defined by absent or barely detectable GALT enzyme activity and/or the presence of two null or severe missense variations), assessed with comparable test instruments...
April 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28374897/galactose-1-phosphate-uridyltransferase-deficiency-a-literature-review-of-the-putative-mechanisms-of-short-and-long-term-complications-and-allelic-variants
#3
REVIEW
Emanuela Viggiano, Anna Marabotti, Luisa Politano, Alberto Burlina
Galactosemia type 1 is an autosomal recessive disorder of galactose metabolism, determined by a deficiency in the enzyme galactose-1-phosphate uridyltransferase (GALT). GALT deficiency is classified as severe or variant depending on biochemical phenotype, genotype and potential to develop acute and long-term complications. Neonatal symptoms usually resolve after galactose-restricted diet; however, some patients, despite the diet, can develop long-term complications, in particular when the GALT enzyme activity results absent or severely decreased...
April 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28370567/vertically-oriented-and-shape-tailored-electrocatalytic-metal-nanowire-arrays-for-enzyme-free-galactosemia-rapid-diagnosis
#4
Laura García-Carmona, María Cristina González, Alberto Escarpa
Metallic catalytic nanowires such as nickel and copper nanowires (NWs) for electrochemical detection of carbohydrates involved in metabolic rare diseases are proposed. NWs were electrodeposited using a polycarbonate membrane template, which was cut with the desired shape, stuck in double-sided adhesive tape, pasted into a non-conductive substrate and in situ removed. This simple and versatile approach allowed to obtain NWs vertically oriented (v-NWs), which are contained in the double-sided adhesive tape, becoming highly versatile...
April 3, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/28331195/galactose-and-its-metabolites-deteriorate-metaphase-ii-mouse-oocyte-quality-and-subsequent-embryo-development-by-disrupting-the-spindle-structure
#5
Mili Thakur, Faten Shaeib, Sana N Khan, Hamid-Reza Kohan-Ghadr, Roohi Jeelani, Sarah R Aldhaheri, Bernard Gonik, Husam M Abu-Soud
Premature ovarian insufficiency (POI) is a frequent long-term complication of classic galactosemia. The majority of women with this disorder develop POI, however rare spontaneous pregnancies have been reported. Here, we evaluate the effect of D-galactose and its metabolites, galactitol and galactose 1-phosphate, on oocyte quality as well as embryo development to elucidate the mechanism through which these compounds mediate oocyte deterioration. Metaphase II mouse oocytes (n = 240), with and without cumulus cells (CCs), were exposed for 4 hours to D-galactose (2 μM), galactitol (11 μM) and galactose 1-phosphate (0...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28281081/sweet-and-sour-an-update-on-classic-galactosemia
#6
REVIEW
Ana I Coelho, M Estela Rubio-Gozalbo, João B Vicente, Isabel Rivera
Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life-threatening disease, whose clinical picture can be resolved by a galactose-restricted diet. The dietary treatment proves, however, insufficient in preventing severe long-term complications, such as cognitive, social and reproductive impairments. Classic galactosemia represents a heavy burden on patients' and their families' lives...
March 9, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28213126/the-galactose-induced-decrease-in-phosphate-levels-leads-to-toxicity-in-yeast-models-of-galactosemia
#7
Caio M Machado, Evandro A De-Souza, Ana Luiza F V De-Queiroz, Felipe S A Pimentel, Guilherme F S Silva, Fabio M Gomes, Mónica Montero-Lomelí, Claudio A Masuda
Classic galactosemia is an inborn error of metabolism caused by deleterious mutations in the GALT gene. A number of evidences indicate that the galactose-1-phosphate accumulation observed in patient cells is a cause of toxicity in this disease. Nevertheless, the consequent molecular events caused by the galactose-1-phosphate accumulation remain elusive. Here we show that intracellular inorganic phosphate levels decreased when yeast models of classic galactosemia were exposed to galactose. The decrease in phosphate levels is probably due to the trapping of phosphate in the accumulated galactose-1-phosphate since the deletion of the galactokinase encoding gene GAL1 suppressed this phenotype...
February 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28203327/a-rapid-screening-test-on-dried-blood-for-the-neonatal-diagnosis-of-tyrosinemia-type-i
#8
Farahnaz Bodaghkhan, Bita Geramizadeh, Abbas Abdollah Rajeh, Mahmoud Haghighat, Mohsen Dehghani, Naser Honar, Mojgan Zahmatkeshan, Mohammad-Hadi Imanieh
BACKGROUND: Tyrosinemia is an inherited metabolic disorder characterized by elevated levels of tyrosine and its metabolites in plasma. Without treatment, the disease will progress to hepatic and renal failure, so that without liver transplantation will cause death in less than 10 years of age. So, early diagnosis and treatment can be life saving and crucial. It means that with early treatment starting in the neonatal period, the patient can have normal life with very few restrictions in diets containing tyrosine and phenylalanine...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28173647/-analysis-of-newborn-screening-for-galactosemia-and-genotype-phenotype-of-confirmed-galatosemia-cases
#9
R L Yang, F Tong, F Hong, G L Qian, D W Wu, Z Y Zhao
Objective: To investigate the prevalence of galactosemia(GAL), and the characteristics of genotype and phenotype of newborns who were confirmed with GAL in newborn screening in Zhejiang province. Method: The number of all live births, newborn screened infants and all clinical data of confirmed newborns with GAL from October 2013 to March 2015 were retrospectively analyzed by reviewing the data of Zhejiang Province screening center database. And the characteristics of genes and the clinical data of GAL cases who were confirmed by correlative gene test and enzyme activity measurement were analyzed...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28148683/the-contribution-of-intestinal-gluconeogenesis-to-glucose-homeostasis-is-low-in-2-day-old-pigs
#10
Claire Cherbuy, Pierre Vaugelade, Simon Labarthe, Edith Honvo-Houeto, Béatrice Darcy-Vrillon, Malcolm Watford, Pierre-Henri Duée
BACKGROUND: Active gluconeogenesis is essential to maintain blood glucose concentrations in neonatal piglets because of the high glucose requirements after birth. In several adult mammals, the liver, kidney, and possibly the gut may exhibit gluconeogenesis during fasting and insulinopenic conditions. During the postnatal period, the intestine expresses all of the gluconeogenic enzymes, suggesting the potential for gluconeogenesis. Galactose in milk is a potential gluconeogenic precursor for newborns...
February 1, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28123333/clinical-molecular-and-genetic-evaluation-of-galactosemia-in-turkish-children
#11
Sezen Ugan Atik, Semra Gürsoy, Tuba Koçkar, Hasan Önal, Servet Erdal Adal
AIM: Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the enzyme is absent, an infant cannot metabolize galactose-1-phosphate and it cumulates in liver, kidney, brain, tongue, lens, and skin. This study aimed to evaluate the clinical and molecular characteristics of patients with galactosemia, which is observed more frequently in our country than anywhere else in the world...
December 2016: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28078493/false-positive-newborn-screen-using-the-beutler-spot-assay-for-galactosemia-in-glucose-6-phosphate-dehydrogenase-deficiency
#12
Grace Stuhrman, Stefanie J Perez Juanazo, Kea Crivelly, Jennifer Smith, Hans Andersson, Eva Morava
Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency that was originally diagnosed with classical galactosemia. The patient presented with elevated liver function enzymes and bilirubinemia and was immediately treated with soy-based formula. Confirmatory tests revealed deficiency of the GALT enzyme, however, full-sequencing of GALT was normal, suggestive of a different ideology...
January 12, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28075131/classical-galactosemia-insight-into-molecular-pathomechanisms-by-differential-membrane-proteomics-of-fibroblasts-under-galactose-stress
#13
Simon Staubach, Stefan Müller, Murat Pekmez, Franz-Georg Hanisch
Classical galactosemia, a hereditary metabolic disease caused by the deficiency of galactose-1-phosphate uridyltransferase (GALT; EC 2.7.712), results in an impaired galactose metabolism and serious long-term developmental affection of the CNS and ovaries, potentially related in part to endogenous galactose-induced protein dysglycosylation. In search for galactose-induced changes in membrane raft proteomes of GALT-deficient cells, we performed differential analyses of lipid rafts from patient-derived (Q) and sex- and age-matched control fibroblasts (H) in the presence or absence of the stressor...
January 24, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28065439/nine-years-of-newborn-screening-for-classical-galactosemia-in-the-netherlands-effectiveness-of-screening-methods-and-identification-of-patients-with-previously-unreported-phenotypes
#14
Lindsey Welling, Anita Boelen, Terry G J Derks, Peter C J I Schielen, Maaike de Vries, Monique Williams, Frits A Wijburg, Annet M Bosch
INTRODUCTION: Newborn screening (NBS) for classical galactosemia (CG) was introduced in the Netherlands in 2007. Multiple screening methods have been used since, and currently a two-tier system is used, with residual enzyme activity of galactose-1-phosphate-uridyltransferase (GALT) and total galactose concentration in dried blood spots as the primary and secondary markers. As it is essential to monitor effectiveness of NBS programs, we assessed the effectiveness of different screening methods used over time (primary aim), and aimed to identify and investigate patients identified through NBS with previously unreported clinical and biochemical phenotypes (secondary aim)...
March 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28057307/drosophila-melanogaster-models-of-galactosemia
#15
J M I Daenzer, J L Fridovich-Keil
The galactosemias are a family of autosomal recessive genetic disorders resulting from impaired function of the Leloir pathway of galactose metabolism. Type I, or classic galactosemia, results from profound deficiency of galactose-1-phosphate uridylyltransferase, the second enzyme in the Leloir pathway. Type II galactosemia results from profound deficiency of galactokinase, the first enzyme in the Leloir pathway. Type III galactosemia results from partial deficiency of UDP galactose 4'-epimerase, the third enzyme in the Leloir pathway...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/27995581/bone-health-in-classic-galactosemia-systematic-review-and-meta-analysis
#16
Britt van Erven, Lindsey Welling, Sandra C van Calcar, Artemis Doulgeraki, François Eyskens, Joanna Gribben, Eileen P Treacy, Rein Vos, Susan E Waisbren, M Estela Rubio-Gozalbo, Annet M Bosch
INTRODUCTION: Previous studies have reported an association between classic galactosemia (CG) and decreased bone mass. The primary objective of this systematic review with meta-analysis was to determine the extent of bone mineral density (BMD) Z-score reduction. Low BMD was defined as a Z-score ≤-2 standard deviations (SD). The secondary objective was to evaluate other indicators of bone status through a descriptive analysis. METHODS: Systematic search strategies were developed by an experienced clinical librarian...
December 20, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27975111/an-overview-of-cirrhosis-in-children
#17
REVIEW
Jonathan Cordova, Hilary Jericho, Ruba K Azzam
Cirrhosis is the end result of nearly all forms of progressive liver disease. The diffuse hepatic process can be characterized as a state of inflammation progressing to fibrosis and resulting in nodular regeneration, ultimately leading to disorganized liver architecture and function. The underlying etiology of cirrhosis in children may often differ from adults owing to specific disease processes that manifest in childhood, including biliary atresia, galactosemia, and neonatal hepatitis. Although basic management strategies in children are similar to those in adults, the care given to children with cirrhosis must keep the child's growth and development of paramount importance...
December 1, 2016: Pediatric Annals
https://www.readbyqxmd.com/read/27933355/-central-myelination-disorder-in-classical-galactosemia-case-report-of-two-sisters
#18
C D Reimers, S Hähnel, C Terborg
No abstract text is available yet for this article.
February 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/27878435/novel-phenotypes-and-loci-identified-through-clinical-genomics-approaches-to-pediatric-cataract
#19
Nisha Patel, Deepti Anand, Dorota Monies, Sateesh Maddirevula, Arif O Khan, Talal Algoufi, Mohammed Alowain, Eissa Faqeih, Muneera Alshammari, Ahmed Qudair, Hadeel Alsharif, Fatimah Aljubran, Hessa S Alsaif, Niema Ibrahim, Firdous M Abdulwahab, Mais Hashem, Haifa Alsedairy, Mohammed A Aldahmesh, Salil A Lachke, Fowzan S Alkuraya
Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a multi-gene panel as well as whole-exome sequencing on unselected cohort of pediatric cataract (166 patients from 74 families). Mutations in previously reported cataract genes were identified in 58% for a total of 43 mutations, including 15 that are novel. GEMIN4 was independently mutated in families with a syndrome of cataract, global developmental delay with or without renal involvement...
November 22, 2016: Human Genetics
https://www.readbyqxmd.com/read/27858262/international-clinical-guideline-for-the-management-of-classical-galactosemia-diagnosis-treatment-and-follow-up
#20
Lindsey Welling, Laurie E Bernstein, Gerard T Berry, Alberto B Burlina, François Eyskens, Matthias Gautschi, Stephanie Grünewald, Cynthia S Gubbels, Ina Knerr, Philippe Labrune, Johanna H van der Lee, Anita MacDonald, Elaine Murphy, Pat A Portnoi, Katrin Õunap, Nancy L Potter, M Estela Rubio-Gozalbo, Jessica B Spencer, Inge Timmers, Eileen P Treacy, Sandra C Van Calcar, Susan E Waisbren, Annet M Bosch
Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system...
March 2017: Journal of Inherited Metabolic Disease
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