Vindex, De Vindplaats Van Het Nederlandse Web galt deficiency@ Galactosemia@ Gallstones@ Gastric Cancer@ Gastrointestinal Disorders@Gastrointestinal Reflux Disorder@ Gaucher's Disease@ Generalized http://www.vindex.nl/dir/Health/Conditions_and_Diseases/G
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GALT - Relevant Citations in italian patients with galactose1-phosphate uridyltransferase (galt) deficiency." Human Mutation 8 369-372. http://www.emory.edu/PEDIATRICS/medgen/research/ref.htm
Extractions: Ashino J, Okano Y, Suyama I, Yamazaki T, Yoshino M, Furuyama JI, Lin HC, Reichardt JKV, & Isshiki G, 1995. "Molecular characterization of galactosemia (type I) mutations in Japanese." Human Mutation Cooper, DN & Youssonffian H, 1988. "The CpG dinucleotides and human genetic diseases." Human Mutation Elsas LJ, Dembure P, Langley S, Paulk EM, Hjelm LN, & Fridovich-Keil JL, 1994. "A common mutation associated with the Duarte galactosemia allele." The American Journal of Human Genetics Elsas LJ, Langley SD, Steele E, Evinger J, Fridovich-Keil JL, Brown A, Singh R, Fernhoff P, Hjelm LN and Dembure PP, 1995a. "Galactosemia: A Strategy to Identify New Biochemical Phenotypes and Molecular Genotypes." The American J. Human Genetics Gathof BS, Sommer M, Podskarbi T, Reichardt J, Braun A, Gresser U, & Shin YS, 1995. "Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation." Human Genetics Hirokawa H, Okano Y, Ashino J, Imamura T, Suyama I, Isshiki, 1997. "Molecular Characterization of galacotsemia mutations (Type I) in Japanese." (Abstract #4) The 7th International Conference on Inborn Error of Metabolism, Vienna, Austria.
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: galactosemia, GALT deficiency, galactose diabetes Background: Hereditary galactosemia is among the most common carbohydrate metabolism disorders and can be a life-threatening illness during the newborn period. First described in a variant patient in 1935 by Mason and Turner, galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common enzyme deficiency that causes galactosemia. Removing lactose largely eliminates the toxicity associated with newborn disease, but long-term complications routinely occur, as reported by Komrower and Lee in 1970 and then delineated in a 1990 retrospective survey by Waggoner and associates. Pathophysiology: Galactosemia is associated with the following 3 enzyme deficiencies: Galactokinase converts galactose to galactose-1-phosphate and is not a common deficiency. Uridine diphosphate (UDP) galactose-4-epimerase epimerizes UDP galactose to UDP glucose and also is uncommon.
EMedicine - Galactose-1-Phosphate Uridyltransferase Deficiency Turner, galactose1-phosphate uridyltransferase (galt) deficiency is the most common enzyme deficiency that causes http://www.emedicine.com/ped/byname/galactose-1-phosphate-uridyltransferase-defi
GlycoWord / GlycogeneA-01 type mice during in vitro fertilization, suggesting other binding molecules betweensperm and eggs could compensate for the 1,4-galt-I deficiency in natural http://www.glycoforum.gr.jp/science/word/glycogene/GGA01.html
Extractions: -1,4-Galactosyltransferase ( -1,4-GalT) (EC 2.4.1.38) is a glycosyltransferase that is required for the biosynthesis of the backbone structure from type 2 chain (Gal 4GlcNAc), which appears widely on N-glcans, O-glycans and glycolipids. The type 2 chain is particularly important in the synthesis of sialyl lewis x and SSEA-1, which play a role in the immune system and early embryogenesis, respectively. Although -1,4-GalT gene was believed to be a single gene in the past, novel -1,4-GalT genes were successively isolated in 1997-1998 to form the -1,4-GalT gene family consisting of seven genes. KO mice deficient in the -1,4-GalT activity and faint bands corresponding to the Gal 4GlcNAc structure detected in -1,4-GalT-I KO mice could be derived from other -1,4-GalT gene(s). -1,4-GalT-I KO mice were unexpectedly born normally, although an essential role of the Gal -1,4-GalT-I KO mice showed augmented proliferation and abnormal differentiation of intestinal and epidermal epithelial cells, suggesting the carbohydratechains synthesized by -1,4-GalT-I regulate proliferation and differentiation of epithelial cells (1).
GlycoWord / GlycogeneA-01 type mice during in vitro fertilization, suggesting other binding molecules betweensperm and eggs could compensate for the b1,4-galt-I deficiency in natural http://www.gak.co.jp/FCCA/glycoword/GGA01/GGA01E.html
Extractions: b -1,4-Galactosyltransferase ( b -1,4-GalT) (EC 2.4.1.38) is a glycosyltransferase that is required for the biosynthesis of the backbone structure from type 2 chain (Gal b 4GlcNAc), which appears widely on N-glcans, O-glycans and glycolipids. The type 2 chain is particularly important in the synthesis of sialyl lewis x and SSEA-1, which play a role in the immune system and early embryogenesis, respectively. Although b -1,4-GalT gene was believed to be a single gene in the past, novel b -1,4-GalT genes were successively isolated in 1997-1998 to form the b -1,4-GalT gene family consisting of seven genes. KO mice deficient in the b b -1,4-GalT activity and faint bands corresponding to the Gal b 4GlcNAc structure detected in b -1,4-GalT-I KO mice could be derived from other b -1,4-GalT gene(s). b -1,4-GalT-I KO mice were unexpectedly born normally, although an essential role of the Gal b b -1,4-GalT-I KO mice showed augmented proliferation and abnormal differentiation of intestinal and epidermal epithelial cells, suggesting the carbohydratechains synthesized by
Extractions: Simply Astoria !" GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE APPLICATION NOTES Galactose -1- phosphate uridyltransferase (GALT) activity is determined by measuring its reaction products over time. GALT catalyzes the conversion of galactose -1- phosphate to glucose -1- phosphate. Further reactions with glucose -1- phosphate result in the reduction of NADP+ to NADPH. The amount of fluorescent NADPH produced is proportional to the GALT enzyme activity. tm or equivalent is suitable for analysis. The procedure is designed for use with one 3/16 inch spot or two 1/8 inch spots but may be adapted to alternative punch protocols with appropriate validation. Other tests, such as Phenylalanine or Total Galactose , can be run with the GALT analysis simultaneously from the same extracted sample. For the GALT assay, two fluorometric detectors (active and blank channels) and two cartridges (active and blank) are required. The active cartridge includes an on-line incubator to enhance enzymatic response. Sample throughput is 90 per hour after an initial dwell time of approximately 80 minutes. Privacy Statement
Extractions: GALACTOSEMIA Definition: Milk and dairy products contain lactose (glucose + galactose), the major dietary source of galactose. The metabolism of galactose produces fuel for cellular metabolism through its conversion to glucose-1-phosphate. Galactose also plays an important role in the formation of glycoproteins, glycolipids, and glycosaminoglycans. Galatactosemia is the altered metabolism of galactose due to deficient enzyme activity or impaired liver function resulting in elevated blood galactose concentration. Galactosemia results from the deficiency of one of three different enzymes, each with a distinct phenotype. Disorder Enzyme Deficiency Symptoms Description Classic Galactosemia Galactose-1-phospate uridyl transferase (GALT) Liver and renal dysfunction, cataracts, abnormal neurodevelopment, premature ovarian failure Most common and most severe form. Galactokinase Deficiency Galactokinase Bilateral cataracts, will resolve with dietary therapy Benign Generalized UDPgalactose-4-epimerase Deficiency Uridine diphosphate galactose 4-epimerase Similar to classic galactosemia with additional findings of hypotonia and nerve deafness Benign variant is common, when the defect is localized to red blood cells- no treatment required
Requisition For Molecular Diagnostic Services FACTOR V (Leiden); FRAGILE X SYNDROME; FRIEDREICH'S ATAXIA; GALACTOSEMIA(galactose1-phosphate uridyl transferase (galt) deficiency); http://www.compgene.com/reqweb.htm
Extractions: Comprehensive Genetic Services SC, 3720 North 124th Street, Milwaukee, WI 53222 Toll free (877) COMPGENE or (414) 393 - 1000, FAX: (414) 393 - 1399 E-mail: compgene@worldnet.att.net DATE (MM/DD/YY): PATIENT NAME: DATE of BIRTH(MM/DD/YY): YOUR PATIENT ID# (if desired): REFERRING PHYSICIAN: ADDRESS TO SEND REPORT: ADDRESS TO SEND INVOICE: ETHNIC ORIGIN: SAMPLE TYPE: DATE SAMPLE OBTAINED(MM/DD/YY): INDICATION: FAMILY HISTORY? (Please FAX or enclose pedigree with samples)
CPT CODES Galactosemia (galt) MIM 230400, interpretation and report x1 83912.Hemophilia A (HEMA) / Factor VIII deficiency(Direct) MIM 306700, http://www.compgene.com/cpt.htm
DNA Data new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italianpatients with galactose1-phosphate uridyltransferase (galt) deficiency. http://www.ich.bris.ac.uk/galtdb/galtrefs.html
Extractions: GALT db List of references. Number Author Ashino J, Okano. Y, Suyama I, Yamazaki T, Yoshino M, Furuyama J, Lin HC, Reichardt JK, Isshiki G Year Title Molecular characterisation of galactosemia (type 1) mutations in Japanese. Journal Hum Mut 6: 36-43. Ref Ashino et al, 1995 Number Author Boleda MaD, Tyfield L Year Title To database (Nov, 1997) Journal to database Ref Boleda and Tyfield, Nov 1997 Number Author Boleda MD, Giros M, Campistol J, Alvarez L, Velasco J, Briones P Year Title Galactosemia: clinical, biochemical and genotype studies in Spanish patients. Journal SSIEM, 33rd Annual Symposium, Toledo Spain Ref Boleda et al, 1995 Number Author Boleda MaD Year Title Personal communication (1995) Journal to database Ref Boleda, 1995 Number Author Coskun T, Erkul E, Seyrantepe V,Ozguc M, Tokatli A, Azalp I Year Title Mutation analysis of Turkish galactoaemia patients. Journal J Inher Metab Dis 18: 368-9. Ref Coskun et al, 1995 Number Author Coskun T (Mar, 1998) to database Year Title To database (Mar 16, 1998) Journal to database Ref Coskun, 1998
Nature Publishing Group We identified 14 mutations in 15 Japanese subjects from 13 families with galactose1-phosphateuridyltransferase (galt) deficiency using denaturing gradient http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v7/n7/abs/5200368a
Extractions: This page has moved. Click here to view. Medical Library. Full Text Journals Medical Books Online. Physicians Drug Reference G *Gadolinium, for MRI Gastric Gastrin (G) cells Gastrointestinal disease Gastrointestinal dysfunction, autonomic Gene(s) Gene amplification Genetics Genetic therapy, for sickle cell disorders Ghon lesion Gianotti-Crosti syndrome (papular acrodermatitis of childhood) Glomerular injury Glomerular proteinuria Glucocorticoids Gluconeogenesis Golfer's elbow Goltz's syndrome, genetics Gonococcal infections Gonococcemia Growth disorders Growth hormone (GH) Gynecomastia Gadolinium, for MRI [ch362 ¶13] Gait apraxic [ch21 ¶85] astasia-abasia [ch21 ¶90] cerebellar ataxic [ch21 ¶87] choreoathetotic [ch21 ¶86] disturbances of [ch21 ¶61-¶90] differential diagnosis [ch21 ¶79-¶90] and dizziness [ch20 ¶75] pathogenesis [ch21 ¶70] examination [ch360 ¶39-¶42] hemiparetic [ch21 ¶80] paraparetic [ch21 ¶81] parkinsonian [ch21 ¶84] sensory ataxic [ch21 ¶88] steppage [ch21 ¶82] vestibular [ch21 ¶89] waddling [ch21 ¶83] Galactokinase deficiency [ch351] Galactorrhea [ch338 ¶5-¶13] diagnosis [ch338 ¶12] differential diagnosis [ch338 ¶7-¶11] [ch338 Table1] drug-induced [ch69 Table1] headache and [ch15 ¶9] treatment [ch338rx1] Galactose [ch285 ¶11] metabolism [ch351 ¶5] Galactosemia [ch351] [ch67 ¶6] classic [ch351 ¶1] clinical features [ch351 ¶10] defined [ch351 ¶1] diagnosis [ch351 ¶11-¶13] genetics [ch65 ¶104] [ch65 ¶136] screening for [ch67 ¶22] pathogenesis [ch351 ¶2-¶9] treatment [ch351rx1] Galactose-1-phosphate uridyl transferase (GALT) deficiency [ch67 ¶6] [ch351 ¶1-¶14]
Untitled However, if the intransit food is isolated from the galt by layers of gluey andhardened food (as a result of enzyme deficiency), no discriminatory action http://freedompressonline.com/FPO_FeaturedArticles_OmegaZyme.htm
Extractions: Editor's note: If you're at all skeptical about the effectiveness of these digestive enzymes, we challenge you to take two to four caplets or scoops of OmegaZyme TM with each meal for about three to five days; then, stop taking them altogether for one to two days. You'll immediately notice the contrast as your body goes back to what you will now realize was your earlier sub-par state of poor digestion and low energy. It is common knowledge that the human body is designed to obtain its fuel that enables it to properly function from food. In order to achieve this feat the food must be digested. Thus, digestion is a most familiar household word. Far less commonly known is what a complex and manifold process is required to perform our digestion in order to extract the necessary nutrients from our food. To understand these mechanisms and put their potentials in proper perspective, we first have to become familiar with a few basic principles. Digestion entails the chemical breakdown of the ingested food, programmed and carried out with high precision. Thus, digestion is essentially a carefully executed decomposition process carried out by an intricate array of interactive enzymes. The ingested food yields only a small proportion of substances that the body is able to assimilate. The rest is eliminated as waste.
Newborn Screening of the body. The State of Utah tests for the galactose1-phosphateuridyltransferase (galt) enzyme deficiency. In this condition http://www.health.utah.gov/cshcn/newbornscreening/Galact_Variant.htm
Extractions: Article: Galactosemia Information for Galactosemia Variant Conditions This information sheet will summarize the genetics of galactosemia and explain some of the issues involved when your child is identified as having a galactosemia allele variant. DEFINITIONS Allele: Alternative form of a gene that occupies the identical site on the chromosome and determines alternative characters in the inheritance. May also be called a variant gene. Autosomal recessive disorder: A condition in which two abnormal genes need to be present in order for the disease to exist. Carrier: A condition in which there is one normal gene and one abnormal gene present. The normal gene supplies the necessary "instruction" for the body to operate. WHAT IS GALACTOSEMIA?
On Endogenous Galactose Production In patients with classical galactosaemia, ie galactose1-phosphate uridyltransferase(galt) deficiency (McKusik 230400), long-term disturbances emerge even http://galactosaemia.com.hosting.domaindirect.com/galactosaemia/endogenous.html
Extractions: schadewa@uni-duesseldorf.de In patients with classical galactosaemia, i.e. galactose-1-phosphate uridyltransferase (GALT) deficiency (McKusik 230400), long-term disturbances emerge even when the patients are on an extremely galactose restricted diet. This might - at least in part - be attributable to the production of free galactose from endogenous sources leading to a so-called 'autointoxication' in the patients. We now addressed the question of quantity and age dependency of endogenous galactose production in galactosaemia. The rate of release of galactose from intracellular sources into plasma is assessed in overnight fasted healthy adults and galactosemic patients by galactose turnover measurements in vivo using stable isotope (1-13C)-labelled galactose as substrate and the primed continuous infusion approach ([1-13C]galactose priming i.v., 1 mg/kg body weight; i.v. infusion; 0.15 mg/kg body weight per h for 6 h). According to our experience, stable metabolic conditions are reached within 3 h after start of 13C-label infusion. In any case, in patients exhibiting GALT activity in RBC of less than 1 % of control, the release of galactose from endogenous intracellular sources ranged from 10 to 20 mg/kg body weight per d. In addition, about 3 to 10 mg/kg body weight per d of galactose was obviously converted intracellularly to yield galactitol prior to the release into the plasma compartment and subsequent excretion by the kidneys. Thus, estimates for total endogenous galactose production ranged from 12 to 25 mg/kg body weight per d (about 800 - 1800 mg/d at 70 kg).
Significant Scots - John Galt In this tale galt very rashly abandoned his own field of broad reality and imaginationcould aid him; and therefore it exhibited a marked deficiency both in http://www.electricscotland.com/history/other/johngalt.htm
John David Galt - Questions Related To Enhancing "tar" cygwin dot com; Subject Questions related to enhancing tar ; From John David galt jdg at to Cygwin, I would like to correct what I see as a deficiency in the http://sources.redhat.com/ml/cygwin/2001-06/msg01772.html
Extractions: This is the mail archive of the cygwin@cygwin.com mailing list for the Cygwin project Index Nav: Date Index Subject Index Author Index Thread Index Message Nav: Date Prev Date Next Thread Prev Thread Next http://cygwin.com/ml/#unsubscribe-simple Bug reporting: http://cygwin.com/bugs.html Documentation: http://cygwin.com/docs.html FAQ: http://cygwin.com/faq/ Index Nav: Date Index Subject Index Author Index Thread Index Message Nav: Date Prev Date Next Thread Prev Thread Next
Center For Genetics - Genetic Disorders Congenital hypothyroidism results from a deficiency in the production of thyroidhormone. is an inheritable disorder caused by a lack of the galt (gactose1 http://www.idph.state.ia.us/fch/fam_serv/genetics/gen-disorders.html
