21. Generalised Uridine Diphosphate Galactose-4-epimerase Deficiency -- Walter Et Al In galt deficiency there is considerable endogenous production of galactose As in galt deficiency, treatment with a galactose restricted diet reverses http://adc.bmjjournals.com/cgi/content/full/80/4/374

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Walter, J H Articles by MacFaul, R Related Collections Genetics Nutrition and Metabolism Arch Dis Child 374-376 ( April ) Generalised uridine diphosphate galactose-4-epimerase deficiency J H Walter, a R E P Roberts, a G T N Besley, a J E Wraith, a M A Cleary, a J B Holton, b R MacFaul c a Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester M27 4HA, UK, b Department of Child Health, Royal Hospital for Sick Children, Bristol BS1 5PZ, UK, c Pinderfields General Hospital, Wakefield, West Yorkshire WF1 4DG, UK

22. Galactosemia CONCLUSION galt deficiency is the most common form of galactosaemia in black The creation of a knockout mouse model for galt deficiency was aimed at http://www.thedoctorsdoctor.com/diseases/galactosemia.htm

Background This is a rare inherited disorder of metabolism. There are two main variants, classic and Duarte. It is inherited as an autosomal recessive trait, meaning both parents must carry the defective gene. Galactose is a sugar, commonly formed when lactose, found in dairy products such as milk, cheese, butter, is broken down into galactose and glucose. In these patients, the enzyme normally responsible for metabolizing galactose is deficient or missing. This results in an accumulation of galactose which may infiltrate various organs including the liver and the lens. Over time, progressive liver and kidney failure may occur. Cataracts may occur. Progressive neurologic deterioration may also occur. OUTLINE Epidemiology Disease Associations Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing ... Internet Links EPIDEMIOLOGY CHARACTERIZATION GEOGRAPHY Galactosaemia in black South African children. Ojwang PJ, Manickum T, Deppe WM. Department of Chemical Pathology, Faculty of Medicine, University of Natal, Durban, South Africa. East Afr Med J 1999 May;76(5):247-50 Abstract quote

23. Newborn Screening Program - Galactosemia The biochemical consequence of galt deficiency is abnormally high concentrationsof galactose and its metabolites in body tissues and fluids. http://www.idph.state.il.us/HealthWellness/fs/galactosemia.htm

Galactosemia Definition Galactosemia is an inherited defect of galactose metabolism caused by an enzyme deficiency that prevents proper metabolism and utilization of galactose, or milk sugar. The main dietary source of galactose is lactose, the principle carbohydrate found in all forms of milk. Clinical Symptoms Although infants with galactosemia may appear normal at birth, within a few days to two weeks after initiating milk feedings, the symptoms of untreated galactosemia can become very severe. Early signs of the disease include feeding problems, poor sucking reflex, jaundice and hepatomegaly. Other symptoms may include failure to thrive, lethargy, cataracts, hypoglycemia, coagulation problems and decreased immunity. Newborn Screening and Definitive Diagnosis Treatment Incidence The incidence of classical galactosemia is one in 60,000 births. Illinois began testing for galactosemia in 1984 and more than 70 cases of classical galactosemia, 170 carriers and 80 cases with a variant form of the disorder have been identified. Inheritance Pattern Galactosemia is inherited in an autosomal recessive pattern. As an autosomal recessive disorder, the parents of a child with galactosemia are unaffected, healthy carriers of the condition and have one normal gene and one abnormal gene. With each pregnancy, carrier parents have a 25 percent chance of having a child with two copies of the abnormal gene, resulting in classical galactosemia. Carrier parents have a 50 percent chance of having a child who is an unaffected carrier and a 25 percent chance of having an unaffected, non-carrier child. These risks would hold true for each pregnancy. All siblings of infants confirmed to have galactosemia also should be tested; genetic counseling services should be offered to the family.

24. Annual Reviews - Error However, this galt deficiency remains an enigma. A European multicenter studyof phenylalanine hydroxylase deficiency classification of 105 mutations http://arjournals.annualreviews.org/doi/pdf/10.1146/annurev.genom.5.061903.18000

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25. WebMD With AOL Health - Galactosemia Galactose1-Phosphate Uridyl Transferase Deficiency; galt deficiency. DisorderSubdivisions. None. General Discussion. Galactosemia is a rare, http://aolsvc.health.webmd.aol.com/hw/raising_a_family/nord373.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; Friday, September 09, 2005 WebMD Main Condition Centers Medical Library Health Tools ... For a Complete Report Galactosemia Important It is possible that the main title of the report Galactosemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Galactose-1-Phosphate Uridyl Transferase Deficiency GALT Deficiency Classic Galactosemia Disorder Subdivisions None General Discussion Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body’s ability to convert galactose (a sugar contained in milk, including human mother’s milk) to glucose (a different type of sugar). Galactose is converted to glucose by a series of three enzyme reactions. The disorder is caused by a deficiency of an enzyme known as "galactose-1-phosphate uridyl transferase" which is vital to this process. Galactosemia may also be referred to as classic galactosemia because a few variants of the gene for galactosemia have been identified. One variant causes a milder form of the disorder known as Duarte galactosemia. Classic galactosemia is the most severe form. Because milk is the staple of an infant's diet, early diagnosis and treatment of this disorder is absolutely essential to avoid serious lifelong disability.

26. Galactosaemia - Patient UK Synonyms Galactosemia, Galactose1-Phosphate Uridyltransferase (GALT) Deficiency,galt deficiency. Epidemiology Autosomal recessive inherited disorder of http://www.patient.co.uk/showdoc/40001734/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Galactosaemia Synonyms: Galactosemia, Galactose-1-Phosphate Uridyltransferase (GALT) Deficiency, GALT Deficiency Epidemiology Autosomal recessive inherited disorder of carbohydrate metabolism (Chromosome 9). Incidence: 1:44,000 births M=F, Presentation Neonatal feeding difficulties (eg vomiting, diarrhoea , failure to gain weight), lethargy, hypotonia, jaundice (initially unconjugated, can be conjugated later), hepatomegaly and abnormal liver enzymes, bleeding+ (coagulopathy). Cataracts or ascites can occur in neonatal period onwards, as can sepsis - particularly with E Coli . Vitreous haemorrhages also occur. Later features mental retardation , tremor, ataxia , speech defects, cirrhosis portal hypertension , short stature, ovarian failure due to hypergonadotropic hypogonadism Investigations Urine for galactosuria (urine reducing substances), quantitative erythrocyte GALT analysis.

27. Rare Diseases Terms - Office Of Rare Diseases galt deficiency. Hepatomegaly, cataracts, and mental retardation. Information aboutGalactose1-phosphate uridyltransferase deficiency is available from http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=2424

28. Publication List Of K.-J. Hsiao: Conference Abstract (1996- 2000) Common 1034 A mutation of galactose1-phosphate uridyl transferase (GALT) inChinese galt deficiency patients. 16th Joint Annual Conference of Biomedical http://www.kjhsiao.idv.tw/publication/conference-5.htm

Publication List of Kwang-Jen Hsiao, Ph.D. (¿½ ¼s ¤¯ ±Ð ±Â) Conference Abstracts (1997 - Present) Hsiao KJ , Chiang SH. Interlaboratory quality survey for maternal blood screening of Down syndrome in Taiwan. 2nd Asian Congress on Down Syndrome Screening, Taipei, 1997;36. Hsiao KJ . Trends in diagnosing inherited metabolic disease. J Paediatr Child Health, 1997;33 (Suppl.1):S14. Hsiao KJ , Chiang SH. The organization of the neonatal screening program in Taiwan. J Paediatr Child Health 1997;33(Suppl.1):S27. Liu TT, Lu SF, Hsiao KJ . Genonic structure of the human 6-pyruvoyl-tetrahydropterin synthase gene. 12th Jonint Annual Conference of Biomedical Sciences , Taipei, 1997;260. Lee YR, Chen CH, Hsiao KJ . Systematic search for variation in the human catechol-O-methyltransferase gene and Association study with schizophrenia. 12th Jonint Annual Conference of Biomedical Sciences, Taipei, 1997;261. Hsiao KJ , Liu TT, Lu SF, Wu SJ, Wu KF, Chiang SH. Mutation characteriation of Chinese phenylketonuria caused by 6-pyruvoyl tetrahydropterin synthase deficiency. 7th Intl. Congreess of Inborn Errors of Metabolism, Vienna, 1997;45. Shiue HS, Chang CL, Chang PL, Wang SS, Lin AP, Wu JS

29. Galactosemia Galactose1-Phosphate Uridyl Transferase Deficiency; galt deficiency The disorder is caused by a deficiency of an enzyme known as galactose-1-phosphate http://www.bchealthguide.org/kbase/nord/nord373.htm

var hwPrint=1;var hwDocHWID="nord373";var hwDocTitle="Galactosemia";var hwRank="1";var hwSectionHWID="nord373-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Galactosemia Important It is possible that the main title of the report Galactosemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Galactose-1-Phosphate Uridyl Transferase Deficiency GALT Deficiency Disorder Subdivisions None General Discussion Two variants of the gene for Galactosemia have been identified. One causes a milder form of the disorder, while the other is the cause of a more severe form. These variants can be distinguished by differences in galactose metabolism since each affects a different step in the conversion process. Because milk is the staple of an infant's diet, early diagnosis and treatment of this disorder is absolutely essential to avoid serious lifelong disability. Resources CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG

30. 230400 GALACTOSEMIA GALACTOSE1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY galt deficiency (1989)described a 24-year-old woman homozygous for galt deficiency who, http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:230400] -e

31. *606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT novel GALT mutations in 2 Japanese patients with galt deficiency and found also in the GALT gene (606999) had been associated with galt deficiency. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:606999] -e

32. ILAR Journal Online, Volume 43(2) 2002: Mouse Models Of Human Disease Classical galactosemia typically results from galt deficiency and presents in the To study the pathogenesis of galt deficiency and to understand the http://dels.nas.edu/ilar_n/ilarjournal/43_2/Mousetrap.shtml

@import "../images/journal_style.css"; @import "../images/article_style.css"; Online Issues ILAR Journal V43(2) 2002 Mouse Models of Human Disease View/Download Brochure (PDF): Mousetrap The Mousetrap: What We Can Learn When the Mouse Model Does Not Mimic the Human Disease Sarah H. Elsea and Rebecca E. Lucas Sarah H. Elsea, Ph.D., F.A.C.M.G., is Assistant Professor and Director of the DNA Diagnostic Program, Departments of Zoology and Pediatrics and Human Development, Michigan State University, East Lansing, Michigan. Rebecca E. Lucas is a Ph.D. Candidate in the Genetics Graduate Program at Michigan State University. Abstract Key Words: gene knockout; metabolic disease; mouse model Introduction The use of genetically engineered mice as models has become commonplace in the study of many human metabolic diseases as well as diseases with a more complex origin. Many classic "one gene, one enzyme" metabolic diseases are relatively easy to recreate in mice through gene-targeting technology in embryonic stem (ES To gain a greater understanding of the metabolic pathways that are disturbed in the knockout mice, several groups have created alternate gene knockouts or double gene knockouts of genes in the same or overlapping/interacting metabolic pathway. Table 2 is a summary of these secondary mouse models. This technique was especially useful in the study of a few diseases and will be discussed briefly.

33. Galactosemia Classic Galactosemia, galt deficiency, Galactose1-Phosphate UridyltransferaseDeficiency. Includes Variant Galactosemias http://www.geneclinics.org/profiles/galactosemia/details.html

Galactosemia Classic Galactosemia, GALT Deficiency, Galactose-1-Phosphate Uridyltransferase Deficiency. Includes: Variant Galactosemias] Author: Louis J Elsas II, MD, FACMG About the Author Initial Posting: 4 February 2000 Last Update 2 May 2005 Summary Disease characteristics. Galactosemia is a disorder of galactose metabolism that can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and sepsis in untreated infants. If a lactose-galactose-restricted diet is provided during the first ten days of life, the neonatal symptoms quickly resolve and the complications of liver failure, sepsis, neonatal death, and mental retardation can be prevented. Despite adequate treatment from an early age, children with galactosemia remain at increased risk for developmental delays, speech problems (termed 'verbal dyspraxia'), and abnormalities of motor function. Females with galactosemia are at increased risk for premature ovarian failure. Diagnosis/testing. Galactosemia is caused by deficient activity of the enzyme galactose-phosphate uridyltransferase (GALT), which catalyzes the production of glucose-1-phosphate and uridyldiphosphate (UDP)-galactose from galactose-1-phosphate and UPD-glucose. Galactosemia can be detected in virtually 100% of

34. Definitions Of Genetic Disorders-G galt deficiency galactos.htm Gammaglobulin Deficiency agamprim.htm GANgan.htm Ganglioside Neuraminidase Deficiency ml4.htm Ganglioside Sialidase Deficiency http://www.icomm.ca/geneinfo/def-g.htm

35. Quantitative Beutler Test For Newborn Mass Screening Of Galactosemia Using A Flu Patients with galt deficiency were distinguished clearly from healthy subjects There were no new cases of galt deficiency in the screened population. http://www.clinchem.org/cgi/content/full/46/6/806

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Clinical Chemistry This Article Abstract Full Text (PDF) Submit a response ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (5) PubMed PubMed Citation Articles by Fujimoto, A. Articles by Oura, T. Related Collections Molecular Diagnostics and Genetics Proteomics and Protein Markers Clinical Chemistry. Articles Quantitative Beutler Test for Newborn Mass Screening of Galactosemia Using a Fluorometric Microplate Reader Akie Fujimoto Yoshiyuki Okano ,a Tomiko Miyagi Gen Isshiki and Toshiaki Oura Osaka City Environment and Public Health Association, Osaka 541-0055, Japan. Department of Pediatrics, Osaka City University Medical School, 1-4-3 Asahimachi, Abeno-ku, Osaka 545-8585, Japan. a Author for correspondence. Fax 81-6-6636-8737; e-mail

36. Quantitative Beutler Test For Newborn Mass Screening Of Galactosemia Using A Flu Patients with galt deficiency were distinguished clearly from healthy subjectsand heterozygous carriers by FI. FI decreased to 75% of the initial activity http://www.clinchem.org/cgi/content/abstract/46/6/806

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Clinical Chemistry This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (5) PubMed PubMed Citation Articles by Fujimoto, A. Articles by Oura, T. Related Collections Molecular Diagnostics and Genetics Proteomics and Protein Markers Clinical Chemistry. Articles Quantitative Beutler Test for Newborn Mass Screening of Galactosemia Using a Fluorometric Microplate Reader Akie Fujimoto Yoshiyuki Okano ,a Tomiko Miyagi Gen Isshiki and Toshiaki Oura Osaka City Environment and Public Health Association, Osaka 541-0055, Japan. Department of Pediatrics, Osaka City University Medical School, 1-4-3 Asahimachi, Abeno-ku, Osaka 545-8585, Japan. a Author for correspondence. Fax 81-6-6636-8737; e-mail

37. Clinical Chemistry And Laboratory Medicine - Abstract Another form of galt deficiency is Duarte galactosemia with N314D mutationassociated alleles (Duarte2). Although heterozygotes for classical galactosemia http://www.degruyter.de/journals/cclm/abs/9486.html

Clinical Chemistry and Laboratory Medicine Volume 40, Issue 11 Jana Lukac-Bajalo, Janja Marc, Barbara Mlinar, Natasa Karas, Ciril Krzisnik and Tadej Battelino GALT ) Gene in the Slovenian Population Abstract (XII.02)

38. Index galt deficiency Gammaglobulin Deficiency GAN Ganglions GangliosideNeuraminidase Deficiency Ganglioside Sialidase Deficiency http://my.webmd.com/hw/index/index-topics-G.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Search the Help Health Topics Click a letter to see a list of topics beginning with that letter A B C D ... GY G G Syndrome back to top G6PD Deficiency back to top GA GA I GA II Galactocerebrosidase (GALC) Deficiency Galactocerebrosidase Deficiency ... back to top GB GBS back to top GC GCM Syndrome GCPS GCS back to top GE Gelineau's Syndrome Genee-Wiedemann Syndrome General fibrosis syndrome Generalized Flexion Epilepsy ... back to top GH GHBP GHD GHR back to top GI Gianotti Crosti Syndrome Giant Axonal Disease Giant Axonal Neuropathy Giant Benign Lymphoma ... back to top GL GLA GLA Deficiency Glandular Plague Glanzmann Disease ... back to top GN GNPTA back to top GO Goat Fever Goitrous Autoimmune Thyroiditis Goldenhar Syndrome (Oculo Auriculo Vertebral Spectrum) Goldenhar-Gorlin Syndrome ... Gonadal Dysgenesis (45,X)

39. Index galt deficiency Nord GamAnon Family Groups - Gambling Shc GamblersAnonymous - Gambling Shc Gambling Shc Gambling Helpline Shc http://my.webmd.com/hw/index/index-all-G.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Search the Help All Topics Click a letter to see a list of topics beginning with that letter A B C D ... GY G G Syndrome [Nord] back to top G. G.A.P. (Grandparents As Parents) - Parenting / Grandparenting [Shc] back to top G6PD Deficiency [Nord] back to top GA GA I [Nord] GA II [Nord] GAINS Center - Crime Victims Helpline [Shc] Gait analysis for cerebral palsy [TestDetail] ... back to top GB GBS [Nord] back to top GC GCM Syndrome [Nord] GCPS [Nord] GCS [Nord] back to top GE Gelineau's Syndrome [Nord] Genee-Wiedemann Syndrome [Nord] General fibrosis syndrome [Nord] Generalized Flexion Epilepsy [Nord] ... back to top GH GH (Growth Hormone) [MedicalTest] GHb (Glycohemoglobin) Test [MedicalTest] GHBP [Nord] GHD [Nord] ... back to top GI Gianotti Crosti Syndrome [Nord] Giant Axonal Disease [Nord] Giant Axonal Neuropathy [Nord] Giant Benign Lymphoma [Nord] ... Giant Cell Glioblastoma, Astrocytoma [Nord]

40. Galactosemia - Genetics Home Reference Mutations in the GALT gene cause two forms of type I galactosemia, classic andDuarte galt deficiency; UDPGalactose-4-Epimerase Deficiency Disease http://ghr.nlm.nih.gov/condition=galactosemia

Home What's New Browse Handbook ... Search Galactosemia Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog References Galactosemia On this page: What is galactosemia? How common is galactosemia? ... help with understanding galactosemia? What is galactosemia? Galactosemia is a disorder that affects how the body processes certain sugars (sugar metabolism). This condition results when the body is not able to process the sugar galactose, which is found in many foods. Galactose also exists as part of another sugar, lactose, found in all dairy products. Liver dysfunction, cataracts (clouding of the lens of the eye), speech problems, and mental impairment are characteristic of this condition if not treated. How common is galactosemia? Classic galactosemia is an inherited disorder that occurs in approximately 1 in 30,000 live births. The incidence of the Duarte variant, a mild type of galactosemia, is more common. This variant affects an estimated 1 in 16,000 live births. What genes are related to galactosemia?

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