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https://www.readbyqxmd.com/read/29153024/-diet-treatment-of-classical-galactosemia
#1
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
#2
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...
October 30, 2017: Journal of Separation Science
https://www.readbyqxmd.com/read/29082548/letter-to-the-editor-on-evidence-for-dopaminergic-denervation-in-classical-galactosemia
#3
Mihaela Boca, Alan Whone
No abstract text is available yet for this article.
October 30, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28971364/genetic-testing-in-pediatric-ophthalmology
#4
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...
October 2, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28961353/the-evolution-of-a-web-resource-the-galactosemia-proteins-database-2-0
#5
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...
September 29, 2017: Human Mutation
https://www.readbyqxmd.com/read/28932969/primary-ovarian-insufficiency-in-classic-galactosemia-current-understanding-and-future-research-opportunities
#6
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...
September 20, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28913702/impaired-fertility-and-motor-function-in-a-zebrafish-model-for-classic-galactosemia
#7
Jo M Vanoevelen, M Estela Rubio-Gozalbo, Britt van Erven, Jörgen Bierau, Xiaoping Huang, Gerard T Berry, Rein Vos, Ana I Coelho
Classic galactosemia is a genetic disorder of galactose metabolism, caused by severe deficiency of galactose-1-phosphate uridylyltransferase (GALT) enzyme activity due to mutations of the GALT gene. Its pathogenesis is still not fully elucidated, and a therapy that prevents chronic impairments is lacking. In order to move research forward, there is a high need for a novel animal model, which allows organ studies throughout development and high-throughput screening of pharmacologic compounds. Here, we describe the generation of a galt knockout zebrafish model and present its phenotypical characterization...
September 14, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28844959/reversal-of-aberrant-pi3k-akt-signaling-by-salubrinal-in-a-galt-deficient-mouse-model
#8
B Balakrishnan, C Nicholas, A Siddiqi, W Chen, E Bales, M Feng, J Johnson, K Lai
Classic Galactosemia is an autosomal recessive disorder caused by deleterious mutations in the GALT gene, which encodes galactose-1 phosphate uridylyltransferase enzyme (GALT: EC 2.7.7.12). Recent studies of primary skin fibroblasts isolated from the GalT-deficient mice demonstrated a slower growth rate, a higher level of endoplasmic reticulum (ER) stress, and down-regulation of the Phosphoinositide 3 kinase/Protein kinase B (PI3K/Akt) signaling pathway. In this study, we compared the expression levels of the PI3K/Akt signaling pathway in normal and GalT-deficient mouse tissues...
August 26, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28831125/exploration-of-the-brain-in-rest-resting-state-functional-mri-abnormalities-in-patients-with-classic-galactosemia
#9
Britt van Erven, Bernadette M Jansma, M Estela Rubio-Gozalbo, Inge Timmers
Patients with classic galactosemia, a genetic metabolic disorder, encounter cognitive impairments, including motor (speech), language, and memory deficits. We used functional magnetic resonance imaging to evaluate spontaneous functional connectivity during rest to investigate potential abnormalities in neural networks. We characterized networks using seed-based correlation analysis in 13 adolescent patients and 13 matched controls. Results point towards alterations in several networks, including well-known resting-state networks (e...
August 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28782660/evaluation-and-management-of-primary-ovarian-insufficiency-in-adolescents-and-young-adults
#10
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
#11
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
#12
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...
November 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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.)
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