Ioana Badiu Tișa, Anca Cristina Achim, Anamaria Cozma-Petruţ,
Galactosemia is an inborn metabolic disorder caused by a deficient activity in one of the enzymes involved ... the metabolism of galactose. The first description of galactosemia in newborns dates from 1908, ever since complex ... and clinical bases of this challenging disease. In galactosemia, the newborn appears to be born in proper ... fatal following ingestion of milk that contains galactose. Galactosemia cannot be cured, but its negative consequences on ... the diet when there is a suspicion of galactosemia. The neonatal screening for galactosemia can urge early ...
Tópico(s): Folate and B Vitamins Research
2022 - Multidisciplinary Digital Publishing Institute | Nutrients
Susan E. Waisbren, Catherine Tran, Didem Demirbas, Cynthia S. Gubbels, Margaret Hsiao, Vikram Daesety, Gerard T. Berry,
Duarte galactosemia is not classic galactosemia, but rather an example of biochemical variant galactosemia that results in approximately 25% residual activity of galactose-1-phosphate uridylyltransferase (GALT) enzyme. In contrast, classic galactosemia is associated with complete or near complete absence of GALT activity. While infants with classic galactosemia are placed on galactose-restricted diets to prevent ... their metabolic disorder, while individuals with Duarte variant galactosemia (Duarte-2 galactosemia) do not require diet therapy. ...
Tópico(s): Neonatal Health and Biochemistry
2021 - Elsevier BV | Molecular Genetics and Metabolism
Mendy M. Welsink‐Karssies, Sacha Ferdinandusse, Gert J. Geurtsen, Carla E. M. Hollak, Hidde H. Huidekoper, Mirian C. H. Janssen, Janneke G. Langendonk, Johanna H. van der Lee, Róisín O’Flaherty, Kim J. Oostrom, Stefan D. Roosendaal, M. Estela Rubio‐Gozalbo, Radka Saldova, Eileen P. Treacy, Frédéric M. Vaz, Maaike C. de Vries, Marc Engelen, Annet M. Bosch,
... mostly affect the central nervous system in classical galactosemia patients. The clinical outcome of patients is highly ... increase knowledge on the natural history of classical galactosemia by studying a cohort of patients with varying ... brain MRI and clinical outcomes was investigated. Classical galactosemia patients visiting the galactosemia expertise outpatient clinic of the Amsterdam University Medical Centre were evaluated according to the International Classical Galactosemia guideline with the addition of an examination by ...
Tópico(s): Mitochondrial Function and Pathology
2020 - Oxford University Press | Brain Communications
Galactosemia, first described in the early 1900s by von Reuss, is an autosomal recessive inborn error of ... of these enzymes is deficient, galactose accumulates and galactosemia is the consequence.Classic galactosemia, resulting from any of more than 250 mutations ... encephalopathy, Escherichia coli sepsis, shock, and, ultimately, death. Galactosemia occurs throughout the world, but its incidence varies ... of galactoproteins, galactolipids, and mucopolysaccharides (Fig).In classic galactosemia, Gal-1-P is the major toxic metabolite, ...
Tópico(s): Neonatal Health and Biochemistry
2019 - American Academy of Pediatrics | Pediatrics in Review
... the recent discovery of a novel form of galactosemia.1.Wada Y, Kikuchi A, Arai-Ichinoi N, ... GALM pathogenic variants cause a novel type of galactosemia. Genet Med 2018 October 19; https://doi.org/ ... During the twentieth century, the molecular basis of galactosemia was revealed through two parallel lines of inquiry. ... is metabolized. Second, various genetic studies established that galactosemia is an inherited metabolic disease.2.Timson D.J. The molecular basis of galactosemia—Past, present and future.1:CAS:528:DC% ...
Tópico(s): Diet and metabolism studies
2018 - Elsevier BV | Genetics in Medicine
Mili Thakur, Gerald L. Feldman, Elizabeth E. Puscheck,
Classic galactosemia is an inborn error of the metabolism with devastating consequences. Newborn screening has been successful in markedly ... 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 ... issues seen in girls and women with classic galactosemia. Literature on the effects of classic galactosemia on the female reproductive system was reviewed by ...
Tópico(s): Birth, Development, and Health
2017 - Springer Science+Business Media | Journal of Assisted Reproduction and Genetics
Brook Pyhtila, Kelly Shaw, Samantha E. Neumann, Judith L. Fridovich‐Keil,
... since the first newborn screening (NBS) test for galactosemia was conducted in Oregon, and almost 10 years since the last US state added galactosemia to their NBS panel. During that time an estimated >2,500 babies with classic galactosemia have been identified by NBS. Most of these ... alive today because of NBS. Newborn screening for galactosemia is a success story, but not yet a ... ending. NBS, follow-up testing, and intervention for galactosemia continue to present challenges that highlight gaps in our knowledge. Here we compare galactosemia screening and follow-up data from 39 NBS ...
Tópico(s): Folate and B Vitamins Research
2014 - Wiley | JIMD Reports
Mazen Al‐Essa, Gursev S. Dhaunsi, Wafa’a Al-Qabandi, Islam Ullah Khan,
Galactosemia is an autosomal recessive disorder with a wide range of clinical abnormalities. Cellular oxidative stress is considered as one of the pathogenic mechanisms of galactosemia. In this study, we examined the activity of ... enzyme system, in peripheral blood lymphocytes (PBL) from galactosemia patients. PBL were isolated from galactosemia patients and healthy control subjects and used for ... measured in the cell homogenates. PBL isolated from galactosemia patients showed significantly reduced ( P < 0.01) activities ...
Tópico(s): Metabolism and Genetic Disorders
2013 - SAGE Publishing | Experimental Biology and Medicine
Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism, due to a severe deficiency of the enzyme, galactose- ... Since the advent of newborn screening (NBS) for galactosemia, we rarely encounter such overwhelmingly ill newborns. After ... that the positive NBS indicates the possibility of galactosemia due to GALT deficiency, the critical question for ... a variant form of GALT deficiency, as classic galactosemia is a medical emergency. However, there are over ... three basic forms of GALT deficiency: 1) classic galactosemia; 2) clinical variant galactosemia; and 3) biochemical variant ...
Tópico(s): Hyperglycemia and glycemic control in critically ill and hospitalized patients
2012 - Elsevier BV | Molecular Genetics and Metabolism
Annika Ohlsson, Claes Guthenberg, Ulrika von Döbeln,
... decade, it became possible to screen for classical galactosemia, a rare autosomal recessive inherited disorder, which is ... newborn screening for PKU has become almost universal, galactosemia is included only in a minority of European newborn screening programs. The major arguments why galactosemia is excluded from newborn screening programs are that ... we have decreased the number of false-positive galactosemia recalls to less than 0.01%, using a ... tests are semiquantitative.With this strategy, screening for galactosemia is inexpensive, does not demand a heavy workload, ...
Tópico(s): Neonatal Health and Biochemistry
2011 - Wiley | JIMD Reports
Gerard T. Berry, Louis J. Elsas,
Hereditary galactosemia is an autosomal recessive genetic disorder of carbohydrate metabolism (OMIM 230400; Fridovich-Keil and Walter 2008; Elsas ... African-American infant with a variant form of galactosemia, served to reveal marked hypergalactosemia as an integral ... a growing awareness that there were “clouds over galactosemia” (Anonymous 1982; Holton and Leonard 1994), that patients ... especially after the introduction of newborn screening for galactosemia in the U.S. in the early 1960s, ... entities occurs in patients with classic and variant galactosemia at different stages of fetal and postnatal maturation ...
Tópico(s): Neonatal Health and Biochemistry
2010 - Springer Science+Business Media | Journal of Inherited Metabolic Disease
Classic galactosemia (McKusic 230400) is an inborn error of galactose metabolism caused by a deficiency of the enzyme galactose- ... a milk-free diet in an infant with galactosemia. In the 1950s, different strategies to feed infants ... Still, there are dilemmas in the treatment of galactosemia, and the dietary treatment varies widely around the ... most important part of managing patients with classic galactosemia is removing all galactose from the diet as ... to prevent further life-threatening complications. Whereas classic galactosemia is part of the newborn screening programs of ...
Tópico(s): Amino Acid Enzymes and Metabolism
2010 - Springer Science+Business Media | Journal of Inherited Metabolic Disease
Rebecca Sanders, Jessica B. Spencer, Michael P. Epstein, Susan Pollak, Pratibhasri A. Vardhana, Joyce W. Lustbader, Judith L. Fridovich‐Keil,
... whether premature ovarian insufficiency (POI) associated with classic galactosemia results from a true impairment of ovarian function ... Study subjects included 35 girls and women with galactosemia and 43 control girls and women between the ... AMH) levels in subjects with and without classic galactosemia. FSH bioactivity was measured in a subset of girls and women with and without galactosemia who were not on hormone therapy.Result(s) ... to 90% of girls and women with classic galactosemia have a profound absence of ovarian function, a ...
Tópico(s): Birth, Development, and Health
2008 - Elsevier BV | Fertility and Sterility
Jamie Wasilenko, Judith L. Fridovich‐Keil,
... in a variant form of the metabolic disorder, galactosemia. Loss of GALE in yeast results in galactose- ... in a variant form of the metabolic disorder, galactosemia. Loss of GALE in yeast results in galactose- ... in a form of the inherited metabolic disorder, galactosemia (2Holton J.B. Walter J.H. Tyfield L. ... The most common and clinically severe form of galactosemia is classic galactosemia (OMIM entry 230400), which affects about 1 in ... Although typically asymptomatic at birth, patients with classic galactosemia develop escalating symptoms after exposure to a milk- ...
Tópico(s): Polyamine Metabolism and Applications
2006 - Elsevier BV | Journal of Biological Chemistry
Barbara Mlinar, Ksenija Geršak, Nataša Karas Kuželički, Irena Prodan Žitnik, Tadej Battelino, Jana Lukač‐Bajalo,
... Scholar) gene mutations, and miscellaneous endocrine disorders. Classical galactosemia, an inborn deficiency of galactose-1-phosphate uridyl ... J.B. Walter J.H. Tyfield L.A. Galactosemia.in: Scriver C.R. Beaudet A.L. Valle ... 1587Google Scholar). The most common cause of classical galactosemia is the Q188R mutation (6Elsas 2nd, L.J. ... N. Dembure P.P. A molecular approach to galactosemia.Eur J Pediatr. 1995; 154: S21-S27Crossref PubMed ... et al.Molecular heterogeneity of classical and Duarte galactosemia mutation analysis by denaturing gradient gel electrophoresis.Hum ...
Tópico(s): Growth Hormone and Insulin-like Growth Factors
2005 - Elsevier BV | Fertility and Sterility
Kimberly K. Openo, Jenny M. Schulz, Claudia A. Vargas, Corey S. Orton, Michael P. Epstein, Rhonda E. Schnur, Fernando Scaglia, Gerard T. Berry, Gary S. Gottesman, Can Fıçıcıoğlu, Alfred E. Slonim, Richard J. Schroer, Chunli Yu, Vanessa E. Rangel, Jennifer C. Keenan, Kerri Lamance, Judith L. Fridovich‐Keil,
Epimerase-deficiency galactosemia results from the impairment of UDP-galactose 4′-epimerase (GALE), the third enzyme in the Leloir pathway of ... impact of dietary intervention on outcome. Epimerase-deficiency galactosemia results from the impairment of UDP-galactose 4′- ... of these three enzymes in humans results in galactosemia, although the symptoms and severity depend on the ... other factors. The first clinically recognized form of galactosemia was profound transferase deficiency (MIM 230400), reported by ...
Tópico(s): Metabolism, Diabetes, and Cancer
2005 - Elsevier BV | The American Journal of Human Genetics
Annet M. Bosch, Martha A. Grootenhuis, H. D. Bakker, Hugo S.A. Heijmans, Frits A. Wijburg, Bob F. Last,
Classical galactosemia (McKusick 230400) is an autosomal recessive disorder of galactose metabolism caused by a deficiency of galactose-1- ... this study was to study the influence of galactosemia on the patients' health-related quality of life (HRQoL), on educational levels, and on the specific galactosemia-related concerns of these families.Age-specific HRQoL questionnaires, a classical galactosemia-specific questionnaire designed by the authors, and a ... sent to all 75 members of the Dutch Galactosemia Society and their families.Sixty-three (84%) patients ...
Tópico(s): Mitochondrial Function and Pathology
2004 - American Academy of Pediatrics | PEDIATRICS
Steven F. Dobrowolski, Richard Banas, Joseph Suzow, Michelle Berkley, Edwin W. Naylor,
Classical galactosemia is a genetic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. Prospective newborn screening for galactosemia is routine and utilizes the universally collected newborn dried blood specimen on filter paper. Screening for galactosemia is achieved through analysis of total galactose (galactose ... to detect the four most frequently encountered classical galactosemia alleles (Q188R, S135L, K285N, and L195P) and the ... results, differentiate D/G mixed heterozygotes from classical galactosemia, and to clearly identify a very high percentage ...
Tópico(s): Amino Acid Enzymes and Metabolism
2003 - Elsevier BV | Journal of Molecular Diagnostics
Chike Bellarmine Item, Brian P Hagerty, Adolf Mühl, Susanne Greber‐Platzer, Sylvia Stöckler‐Ipsiroglu, Wolfgang Strobl,
Newborn screening for galactosemia yields a high number of false-positive results. Confirmatory DNA testing for unknown galactosemia mutations on the initial positive sample using novel ... by the detection of a high percentage of galactosemia carriers, Duarte/galactosemia compound heterozygotes, and infants with benign sequence changes ... carried at least one known or novel candidate galactosemia mutation (one galactosemia homozygote, 7 Duarte/galactosemia compounds, 12 carriers) as judged by denaturing gradient ...
Tópico(s): Mitochondrial Function and Pathology
2002 - Springer Nature | Pediatric Research
James B. Thoden, Travis M. Wohlers, Judith L. Fridovich‐Keil, Hazel M. Holden,
Galactosemia is an inherited disorder characterized by an inability to metabolize galactose. Although classical galactosemia results from impairment of the second enzyme of ... of the more severe cases of epimerase deficiency galactosemia arises from an amino acid substitution at position ... of the sugars into nonproductive binding modes.1I3M1I3N1I3K1I3L Galactosemia is an inherited disorder characterized by an inability to metabolize galactose. Although classical galactosemia results from impairment of the second enzyme of ...
Tópico(s): DNA Repair Mechanisms
2001 - Elsevier BV | Journal of Biological Chemistry
Kristen Riehman, Charity Crews, Judith L. Fridovich‐Keil,
... uridylyltransferase (GALT) results in the potentially lethal disorder galactosemia; the biochemical basis of pathophysiology in galactosemia remains unknown. We have applied a yeast expression ... uridylyltransferase (GALT) results in the potentially lethal disorder galactosemia; the biochemical basis of pathophysiology in galactosemia remains unknown. We have applied a yeast expression ... hGALT) results in the potentially lethal disorder classic galactosemia (2Holton, J. B., Walter, J. H., Tyfield, L. ... 967-1000Google Scholar). Currently, most infants with classic galactosemia born in industrialized nations are detected in the ...
Tópico(s): Folate and B Vitamins Research
2001 - Elsevier BV | Journal of Biological Chemistry
... screening is necessary for the effective diagnosis of galactosemia. The criticism that routine screening for galactosemia is unnecessary is based on the misconception that ... by routine screening, were not suspected to have galactosemia, even when ill. Furthermore, some infants with clinically ... who probably has the Negro variant form of galactosemia and an infant with the Rennes variant of ... age when detected by routine screening. Complications of galactosemia can occur in both variants if treatment is ...
Tópico(s): Blood disorders and treatments
1978 - Elsevier BV | The Journal of Pediatrics
Maurice D. Kogut, George N. Donnell, Kenneth N.F. Shaw,
Ten patients with galactosemia and six control subjects were given oral lactose loads. Only one child, a patient with galactosemia, failed to hydrolyze lactose and absorb its monosaccharide components. Nine of ten patients with galactosemia hydrolyzed lactose in spite of the fact that ... studies indicated that one of the children with galactosemia had an isolated lactase defect. Ten patients with galactosemia and six control subjects were given oral lactose loads. Only one child, a patient with galactosemia, failed to hydrolyze lactose and absorb its monosaccharide ...
Tópico(s): Polyamine Metabolism and Applications
1967 - Elsevier BV | The Journal of Pediatrics
François Feillet, Marc Merten, Shyue-Fang Battaglia-Hsu, Daniel Rabier, Keiko Kobayashi, J. Straczek, M. Brivet, E. Favre, Jean‐Louis Guéant,
Classical galactosemia is an autosomal recessive disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. Undoubtedly, ... free formula (as recommended in citrin deficiency with galactosemia) and her pathological status returned to normal. Citrin ... and hepatic cytolysis and the diagnosis of classical galactosemia was established. Our case clearly shows that cataplerosis ... of the neonatal liver disease observed in classical galactosemia. Classical galactosemia is an autosomal recessive disorder caused ...
Tópico(s): Amino Acid Enzymes and Metabolism
2008 - Elsevier BV | Journal of Hepatology
Linn Salto Mamsen, Tom Kelsey, Erik Ernst, Kirsten Tryde Macklon, Allan M. Lund, Claus Yding Andersen,
... ovarian tissue (OTC) in pre-pubertal girls with galactosemia and further to characterize ovarian follicular morphology and ... below the age of 12 years diagnosed with galactosemia and from 31 girls below the age of ... associated plasma protein A (PAPP-A). Girls with galactosemia below the age of 5 years presented with ... from an 11.7-year-old girl with galactosemia. Expression of AMH, GDF-9, BMP-15, and ... A appeared similar in follicles from girls with galactosemia and controls. These findings suggest that young girls ...
Tópico(s): Sperm and Testicular Function
2018 - Springer Science+Business Media | Journal of Assisted Reproduction and Genetics
Minela Haskovic, Ana I. Coelho, Jörgen Bierau, Jo Vanoevelen, Laura K.M. Steinbusch, Luc J. I. Zimmermann, Eduardo Villamor-Martínez, Gerard T. Berry, M. Estela Rubio‐Gozalbo,
Abstract Since the first description of galactosemia in 1908 and despite decades of research, the pathophysiology is complex and not yet fully elucidated. Galactosemia is an inborn error of carbohydrate metabolism caused ... Summarising current evidence in the pathophysiology underlying hereditary galactosemia may contribute to the identification of treatment targets ... biochemical findings) and/or treatment targets in hereditary galactosemia was performed. PubMed/MEDLINE, EMBASE, and Web of ... pathophysiological agent responsible for the phenotype observed in galactosemia. Other currently described contributing factors include accumulation of ...
Tópico(s): Biochemical Acid Research Studies
2019 - Springer Science+Business Media | Journal of Inherited Metabolic Disease
Merel E. Hermans, Mendy M. Welsink‐Karssies, Annet M. Bosch, Kim J. Oostrom, Gert J. Geurtsen,
Abstract Background Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose- ... profile of cognitive impairments in patients with classical galactosemia. Method MEDLINE, EMBASE and PsychINFO were searched up ... and social cognition in patients with confirmed classical galactosemia utilizing standardized neuropsychological tests. Data synthesis followed a ... to low. As a group, patients with classical galactosemia exhibit below average to low scores on all ...
Tópico(s): Diet and metabolism studies
2019 - BioMed Central | Orphanet Journal of Rare Diseases
Magd A. Kotb, Lobna Mansour, Radwa A. Shamma,
... others. The inability to metabolize galactose results in galactosemia. Galactosemia is an autosomal recessive disorder that affects newborns ... upon consuming milk that contains galactose. Those with galactosemia have a deficiency of an enzyme: classic galactosemia (type 1) results from severe deficiency of galactose-1-uridylyltransferase, while galactosemia type II results from galactokinase deficiency and type ... epimerase deficiency. Many countries include neonatal screening for galactosemia in their national newborn screening program; however, others ...
Tópico(s): Amino Acid Enzymes and Metabolism
2019 - Dove Medical Press | International Journal of General Medicine
Nicholas K. Wang, John Chiang,
... phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.1:CAS:528:DC%2BD3MXitlOju70%3D10.1006/mgme. ... phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.1:CAS:528:DC%2BD3MXitlOju70%3D10.1006/mgme. ... ID: 25111Submitted Interpretations: Benign (2), Pathogenic (3)Classical galactosemia is an autosomal recessive condition characterized by deficient ... GALT activity is less pronounced than causal classic galactosemia alleles. Later studies revealed the causal variant for ...
Tópico(s): Glycosylation and Glycoproteins Research
2018 - Elsevier BV | Genetics in Medicine