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Galactosemia

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https://www.readbyqxmd.com/read/28782660/evaluation-and-management-of-primary-ovarian-insufficiency-in-adolescents-and-young-adults
#1
Rula V Kanj, Nana Ama Ofei-Tenkorang, Mekibib Altaye, Catherine M Gordon
STUDY OBJECTIVE: To identify clinical features associated with primary ovarian insufficiency (POI) and collect data on the evaluation and treatment received. DESIGN: Retrospective chart review. Data abstracted on etiology of POI, history, laboratory evaluation, imaging results, return for clinical care, and treatment plans. SETTING: Urban children's hospital in Cincinnati, Ohio. PARTICIPANT: s: 50 females, age 11-26 years, with initial presentation of POI between January 1, 2006-December 31, 2015...
August 3, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28771245/reactions-to-clinical-reinterpretation-of-a-gene-variant-by-participants-in-a-sequencing-study
#2
Jennifer M Taber, William M P Klein, Katie L Lewis, Jennifer J Johnston, Leslie G Biesecker, Barbara B Biesecker
PurposeAs genome science advances, people receiving personalized genetic information may receive reinterpretations of pathogenicity. Little is known about responses to adjusted results. We examined how reinterpretations might affect attitudes about genetic testing and intentions to share results with family.MethodsData were collected from high-socioeconomic-status participants (n = 58) in a genome sequencing study. Twenty-nine originally learned they were carriers of Duarte variant galactosemia, based on a variant that was reclassified as benign...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28695375/rigor-of-non-dairy-galactose-restriction-in-early-childhood-measured-by-retrospective-survey-does-not-associate-with-severity-of-five-long-term-outcomes-quantified-in-231-children-and-adults-with-classic-galactosemia
#3
Allison B Frederick, David J Cutler, Judith L Fridovich-Keil
One of many vexing decisions faced by parents of an infant with classic galactosemia (CG) is how carefully to restrict non-dairy galactose from their growing child's diet. Until recently, many experts recommended vigorous lifelong dietary restriction of milk and all high-galactose dairy products as well as some non-dairy sources of galactose such as legumes and specific fruits and vegetables. Recently, experts have begun to relax their recommendations. The new recommendations, that restrict only high galactose dairy products, were made in the face of uncertainty, however, because no sufficiently powered study had been reported testing for possible association between rigor of non-dairy galactose restriction and severity of long-term outcomes in CG...
July 10, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28693120/clinical-evaluation-and-mutational-analysis-of-galk-and-gale-genes-in-patients-with-galactosemia-in-greece-one-novel-mutation-and-two-rare-cases
#4
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Maria Chatzidaki, Yannis Dotsikas, Elina Molou, Olga Triantafylli, Yannis L Loukas
BACKGROUND: Deficiencies of galactokinase (GALK) and UDP-epimerase (GALE) are implicated with galactose metabolic disorders. The aim of the study was the identification of mutations in GALK and GALE genes and clinical evaluation of patients. METHODS: Five patients with GALK and five with GALE deficiency were picked up via the Neonatal Screening Program. Additionally, two females, 4 years old, were referred with late diagnosed galactosemia, as rare cases. Mutational analysis was conducted via Sanger sequencing, while in silico analysis tools were utilized for the novel mutation...
June 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28672748/clinical-evaluation-and-mutational-analysis-of-galk-and-gale-genes-in-patients-with-galactosemia-in-greece-one-novel-mutation-and-two-rare-cases
#5
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Maria Chatzidaki, Yannis Dotsikas, Elina Molou, Olga Triantafylli, Yannis L Loukas
BACKGROUND: Deficiencies of galactokinase (GALK) and UDP-epimerase (GALE) are implicated with galactose metabolic disorders. The aim of the study was the identification of mutations in GALK and GALE genes and clinical evaluation of patients. METHODS: Five patients with GALK and five with GALE deficiency were picked up via the Neonatal Screening Program. Additionally, two females, 4 years old, were referred with late diagnosed galactosemia, as rare cases. Mutational analysis was conducted via Sanger sequencing, while in silico analysis tools were utilized for the novel mutation...
July 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28648083/temporal-signal-pattern-recognition-in-mass-spectrometry-a-method-for-rapid-identification-and-accurate-quantification-of-biomarkers-for-inborn-errors-of-metabolism-with-quality-assurance
#6
Alicia DiBattista, Nathan McIntosh, Monica Lamoureux, Osama Y Al-Dirbashi, Pranesh Chakraborty, Philip Britz-McKibbin
Mass spectrometry (MS)-based metabolomic initiatives that use conventional separation techniques are limited by low sample throughput and complicated data processing that contribute to false discoveries. Herein, we introduce a new strategy for unambiguous identification and accurate quantification of biomarkers for inborn errors of metabolism (IEM) from dried blood spots (DBS) with quality assurance. A multiplexed separation platform based on multisegment injection-capillary electrophoresis-mass spectrometry (MSI-CE-MS) was developed to provide comparable sample throughput to flow injection analysis-tandem MS (FIA-MS/MS) but with greater selectivity as required for confirmatory testing and discovery-based metabolite profiling of volume-restricted biospecimens...
July 11, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28579413/fertility-in-adult-women-with-classic-galactosemia-and-primary-ovarian-insufficiency
#7
REVIEW
Britt van Erven, Gerard T Berry, David Cassiman, Geraldine Connolly, Maria Forga, Matthias Gautschi, Cynthia S Gubbels, Carla E M Hollak, Mirian C Janssen, Ina Knerr, Philippe Labrune, Janneke G Langendonk, Katrin Õunap, Abel Thijs, Rein Vos, Saskia B Wortmann, M Estela Rubio-Gozalbo
OBJECTIVE: To study pregnancy chance in adult women with classic galactosemia and primary ovarian insufficiency. Despite dietary treatment, >90% of women with classic galactosemia develop primary ovarian insufficiency, resulting in impaired fertility. For many years, chance of spontaneous conception has not been considered, leading to counseling for infertility. But an increasing number of reports on pregnancies in this group questions whether current counseling approaches are correct...
July 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28545161/classic-galactosemia-study-on-the-late-prenatal-development-of-galt-specific-activity-in-a-sheep-model
#8
Ana I Coelho, Jörgen Bierau, Martijn Lindhout, Jelle Achten, Boris W Kramer, M Estela Rubio-Gozalbo
Classic galactosemia results from deficient activity of galactose-1-phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic and fertility impairments. Prenatal developmental toxicity has been hypothesized as a determinant factor of disease. In order to shed light on the importance of prenatal GALT activity, several studies have examined GALT activity throughout development. GALT was shown to increase with gestational age in 7-28 weeks human fetuses; later stages were not investigated...
May 25, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28451536/neonatal-screening-cost-utility-analysis-for-galactosemia
#9
Nahid Hatam, Mehrdad Askarian, Samad Shirvani, Elham Siavashi
BACKGROUND: Galactosemia is a congenital metabolic disorder that can damage the health of a newborn. Screening is an important step to prevent and treat this condition. Due to increasing health care costs and limited financial resources of health systems, the most suitable economic analysis tool should be applied. The aim of this study was to analyze the cost-utility of neonatal screening program for diagnosing galactosemia in Fars province, Iran. METHODS: In this cross-sectional study and cost-utility analysis in the cost of screening for galactosemia and its financial effects, decision tree model and society's viewpoint were used...
January 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28450132/a-novel-splicing-mutation-in-galt-gene-causing-galactosemia-in-ecuadorian-family
#10
M De Lucca, C Barba, L Casique
Classic Galactosemia (OMIM 230400) is an autosomal recessive disorder of galactose metabolism caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. This disease caused by the inability to metabolize galactose is potentially life-threatening but its pathophysiology has not been clearly defined. GALT gene presents high allelic heterogeneity and around 336 variations have been identified. Here, we report the case of a patient with Classic Galactosemia who was detected during a neonatal screening in Ecuador...
July 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28411097/-acute-liver-failure-related-to-inherited-metabolic-diseases-in-young-children
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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...
May 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
#17
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
#18
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
#19
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
#20
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.Objective: Our aim was to quantify the rate of intestinal glucose production from galactose in piglets compared with the overall rate of glucose production...
March 2017: Journal of Nutrition
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