Extractions: 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 ) 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
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
Extractions: 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
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
Extractions: 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. 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. 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. 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.
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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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
Extractions: Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the bodys ability to convert galactose (a sugar contained in milk, including human mothers 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.
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/
Extractions: 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. 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.
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
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
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
Extractions: 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. 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.
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
*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
Extractions: 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.
Extractions: 2 May 2005 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
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
Index galt deficiency Gammaglobulin Deficiency GAN Ganglions GangliosideNeuraminidase Deficiency Ganglioside Sialidase Deficiency http://my.webmd.com/hw/index/index-topics-G.asp
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
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
Extractions: Home What's New Browse Handbook ... Search Galactosemia On this page: 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. 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?
