1. 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 50 cases of classical galactosemia, 120 carriers and 20 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.

2. Disease Index : G epimerase deficiency. Gal1-P uridyltransferase deficiency. GALK deficiency. galt deficiency. GGM. GK1 deficiency (1) http://oxmedinfo.jr2.ox.ac.uk/Pathway/Miscell/103823.htm

A B C D ... Metabolic charts Disease index : G GABA transaminase deficiency Galactokinase deficiency Galactosaemia Galactosaemia II ... Gyrate atrophy of choroid This page last modified 11 Feb 1996. Pathway Webmaster, Oxford, UK

3. Stoornissen In De Koolhydraatstofwisseling S ynoniemen galt deficiency; C lassic Galactosemi a http://www.homepages.hetnet.nl/~b1beukema/ziekkool.html

Stoornissen in de koolhydraatstofwisseling Stoornissen in de fructose stof wisseling: Essentiële fructosurie ( Fructosuria ) Synoniemen: Hepatische fructokinase deficiëntie ; Ketohexokinase defici ëntie. OMIM: Omim: Clinical Synopsis ExPASy: Ketohexokinase EC 2.7.1.3 Enzym synoniemen: Ketohexokinase -phosphate Heriditaire fructose intolerantie Synoniemen: Fructosemie; fructose-1-phosphate aldolase deficiency; Fructose-1,6-biphosphate aldolase deficiency; Aldolase B deficiency. OMIM: Omim: Clinical Synopsis e-Medicine: Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance) ExPASy: Fructose-bisphosphate aldolase; EC 4 Enzym synoniemen: Aldolase; Fructose-1,6-bisphosphate triosephosphate-lyase glycerone phosphate + D-glyceraldehyde 3-phosphate Zie ook de gluconeogenese en de glycolyse Heriditary fructose 1,6-bisphosphatase Deficiency Synoniemen: Fructose 1,6-diphosphatase deficiency; FBP-ase deficiency; FDP-ase deficiency

4. Developmental Period Medicine - No 1/2001 Classic galactosemia is due to galt deficiency and is the most common. http://medroz.imid.med.pl/en/2001_1_06_an.html

5. Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) From Pediatric Galactose1-Phosphate Uridyltransferase Deficiency (Galactosemia) Synonyms, KeyWords, and Related Terms galactosemia, galt deficiency, galactose diabetes. http://author.emedicine.com/PED/topic818.htm

eMedicine Journal Pediatrics Genetics And Metabolic Disease Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) Synonyms, Key Words, and Related Terms: galactosemia, GALT deficiency, galactose diabetes Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by George A Anadiotis, DO , Consulting Staff, Department of Pediatric Rehabilitation and Development, Division of Clinical and Biochemical Genetics, Emmanuel Children's Hospital Coauthored by Gerard T Berry, MD , Professor, Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia and University of Pennsylvania George A Anadiotis, DO, is a member of the following medical societies: American Medical Association , and American Society of Human Genetics Edited by Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University; Robert Konop, PharmD

6. Untitled galt deficiency. galt deficiency. galt deficiency. galt deficiency. galt deficiency. galt deficiency. galt deficiency http://web.indstate.edu/thcme/mwking/glycolysis.pdf

7. Mioti: Medical Condition Main Page Add Website Add Conference Advertising Information Email Mioti. Condition galt deficiency. NORD Galactosemia. Information http://www.mioti.com/cat/condition/condition.asp?Cat=GALTDeficiency

8. Untitled similar to those of galt deficiency. similar to those of galt deficiency http://www.dentistry.leeds.ac.uk/biochem/thcme/glycolysis.pdf

9. Mioti: Medical Condition Galactosemia, • Gall Bladder Disease. • Galloway Mowat Syndrome, • Gallstones.• galt deficiency, • Gambling Addiction. • Ganglion Cyst, • Gangrene. http://www.mioti.com/cat/condition/results.asp?Alpha=G

10. 5. Galactosemia Initial undifferentiated positive NBS, based on complete galt deficiency G/G genotype. http://genes-r-us.uthscsa.edu/resources/pdf/1996-complete/96Chapt-5.pdf

11. What Is Galactosemia? Galactosemia is a deficiency of GALT. The normal this process. In1998 therewere more than 130 mutations associated with galt deficiency. http://www.galactosemia.org/student_new.htm

Student Research Information PGC is happy to provide assistance to students writing research papers, essays, etc. about galactosemia. The following information was prepared by Barb Bense, ( bbense@banta.com the mother of a galactosemic child), Paul Taylor (the father of a galactosemic child), and Paul Atkinson (also the father of a galactosemic child) to provide additional information to students who are researching galactosemia. Thank you Barb, Paul, and Paul !! Table of Contents What is the history of galactosemia (who and when it was discovered)? How is galactosemia transmitted by parents besides through their genes? Are there any steps that can be taken to prevent galactosemia? What is the scientific name of galactosemia? ... What is the treatment for galactosemia? What is the history of galactosemia (who and when it was discovered)? Another early detailed description of galactosemia was given by Mason, H.H.; Turner, M. E.(Chronic galactosemia: report of case with studies on carbohydrates. Am. J. Dis. Child. 50: 359-374, 1935). Dr. S. Segal presented a picture of this 30-year-old man diagnosed in infancy by Mason, H. H.; Turner, M. E. Beutler, E.; Baluda, M. C.; Sturgeon, P.; Day, R. : (

12. Parents Of Galactosemic Children - Cataracts Dr Elsas presented some data for 41 patients with galt deficiency classicgalactosemia. He defined a ‘good’ outcome as a patient http://www.galactosemia.org/elsas_01.htm

Notes from the 2001 PGC Conference in Atlanta, GA Dr. Elsas's Talk Dr. Elsas introduced his talk as merging public health aspects with clinical care aspects of the disease. Dr. Elsas gave an extensive talk about the biochemistry of galactosemia. He described 4 pathways for galactose to be metabolized (i.e produce energy and proteins from food sources). He described the biochemistry of genetic mutations as well, indicating that of 2 million samples in Georgia over a 20 year period, 1: 37,617 were found to be the classic galactosemia causing mutation and 1: 8,909 were of a variant form. Dr. Elsas indicated that ‘normal’ enzyme activity was 27 +/- 7. Heterozygous carriers have enzyme activity 1/3 to 1/2 normal. Dr. Elsas then gave an extensive discussion of gene structure and function next. He described the role of DNA in coding for RNA, which in turn translates to proteins. He described the role of bacteria in isolating mutations and he described the naming of mutations as well. He described the substitution of mutant arganine (R ) for the normally occurring glutamine (Q) on amino acid 188 in the most common (54% of patients) galactosemia causing mutation (Q188R). He summarized this part of the talk with a call for genetic, molecular level identification as part of public health policy. Dr. Elsas then discussed outcome analysis as having three components, genes, epigenes (other genes that effect outcome), and environment (to include diet, etc). He discussed galactitol, a blood alcohol that, among other things, damages the lens fiber in the eye and causes cataracts. He indicated a premise that pyrophosphorylase can reduce Gal-1-P and galactitol by providing an alternate pathway to the GALT metabolism pathway. Dr. Elsas indicated several aspects of outcome that he measures in clinic. They are

13. Search By Disease 10 Galactosemia. 11 Galactosidase, alpha (GLA). 12 Galactosylceramidase (GALC).13 GALC deficiency. 14 galt deficiency. 15 Gamma3-linked gene (GNG3LG). http://www.eddnal.com/directory/disease.php?letter=G

14. Health Library - Galactosemia report. Synonyms. Galactose1-Phosphate Uridyl Transferase Deficiency;galt deficiency. Disorder Subdivisions. None. General Discussion. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

15. THE LIGHTNING HYPERTEXT OF DISEASE. Packet No. 9 26519 GALACTOSEMIA =galactose1-phosphate uridyltransferase deficiencygalt deficiency galactose-1-phosphate uridyltransferase included galt http://www.pathinfo.com/cgi-bin/lh.cgi?tx=galactosemia

16. Galactose-1-phosphate Uridyltransferase Deficiency (codes) Natural history Late effects are common in patients with galt deficiencyand occur despite early diagnosis and treatment. These http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=458

17. University Of Miami School Of Medicine Gallbladder absence Gallbladder agenesis Gallium Gallop rhythm Gallstones Gallstonesand ERCP Gallstones, microscopic GALT galt deficiency Galton, Sir Francis http://www.med.miami.edu/patients/glossary/list.asp?L=G&T=DICT

18. University Of Miami School Of Medicine FALDH Deficiency, FAO Deficiency, fatty alcohol NAD+ oxidoreductase Deficiency,fatty aldehyde dehydrogenase Deficiency, galt deficiency, glucocerebrosidase http://www.med.miami.edu/patients/glossary/list.asp?L=D&T=DICT

19. Hepatomegaly From OMIM 230400 GALACTOSEMIA GALACTOSE1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY; galt deficiency;GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE, INCLUDED; GALT, INCLUDED 19 http://acadprojwww.wlu.edu/vol4/BlackmerH/public_html/xliberty/biology/hepatomeg

20. Publication List Of K.-J. Hsiao: Conference Abstract (1996- 2000) 206. Lin CH, Liu MY, Chiang SH, Hsiao KJ. Common 1034 A mutation of galactose1-phosphateuridyl transferase (GALT) in Chinese galt deficiency patients. http://www.ym.edu.tw/ig/hsiao/publication/conference-5.htm

Publication List of Kwang-Jen Hsiao, Ph.D. Conference Abstracts (1996 - 2001) Shyu PW, Liu MY, Chen ML, Lee YL, Hong CJ, Hsiao KJ , Chen CH. Screening of fragile mutations at FRAXE and FRAXE loci in mentally retarded males using a non-radioactive PCR method. J Biomed Lab Sci 1996;8:A11. Hsiao KJ . Interlaboratory QA on determination of blood G6PD activity. Symposium on Quality Management of Clinical Laboratory. Chang Hua,Taiwan, 1996;19-20.(in Chinese) Hsiao KJ , Liu TT. Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency. J Biomed Lab Sci 1996;8:A12. Hsiao KJ , Chiang SH. The Experience of neonatal screening in Taiwan. 4th Asian-European Workshop on Inborn Errors of Metabolism, Munich, 1996;27. Liu XQ, Liu TT, Hsiao KJ , Zhang M, Ye J, Chen RG. Mutations detected in the 6-pyruvoyl-tetrahydropterin synthase gene from Chinese phenylketonuria patients. 4th Asian-European Workshop on Inborn Errors of Metabolism, Munich, 1996;35. Zhang M, Gu XF

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