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Disease on EC 2.7.7.12 - UDP-glucose-hexose-1-phosphate uridylyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Carcinoma, Ovarian Epithelial
Galactose-1-phosphate uridyl transferase (GALT) genotype and phenotype, galactose consumption, and the risk of borderline and invasive ovarian cancer (United States).
Cataract
Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations.
Clinical features of galactokinase deficiency: a review of the literature.
Negative screening tests in classical galactosaemia caused by S135L homozygosity.
[Activity of enzymes of galactose metabolism in so-called congenital cataract (author's transl)]
Congenital Disorders of Glycosylation
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
Craniosynostoses
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.
Endometriosis
Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and endometriosis.
Fanconi Syndrome
Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome.
galactokinase deficiency
Biokinetics of galactose in the homozygotes and heterozygotes of both forms of galactosemia.
Clinical features of galactokinase deficiency: a review of the literature.
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Simultaneous quantitative estimation of galactose-1-phosphate and galactose in blood for the diagnosis of galactosemia.
Galactosemias
A Case of Classical Galactosemia: Identification and Characterization of 3 Distinct Mutations in Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in a Single Family.
A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia.
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia.
Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.
Assessment of galactose-1-phosphate uridyltransferase activity in cells and tissues.
Biokinetics of galactose in the homozygotes and heterozygotes of both forms of galactosemia.
Clinical features of galactokinase deficiency: a review of the literature.
Clinical significance of plasma galactose and erythrocyte galactose-1-phosphate measurements in transferase-deficient galactosemia and in individuals with below-normal transferase activity.
Diagnosis of inherited disorders of galactose metabolism.
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.
Galactosemia: when is it a newborn screening emergency?
GALT Deficiency Galactosemia.
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
Hereditary Galactosemia.
Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age.
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
In vivo metabolism and UTP-depleting action of 2-deoxy-2-fluoro-D-galactose.
Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants.
Issues on universal screening for galactosemia.
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study.
Prenatal diagnosis of galactosemia and properties of galactose-1-phosphate uridyltransferase in erythrocytes of galactosemic variants as well as in human fetal and adult organs.
Prenatal diagnosis of galactosemia.
Problems in the diagnosis of transferase and galactokinase deficient galactosemia.
Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry.
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Reversal of aberrant PI3K/Akt signaling by Salubrinal in a GalT-deficient mouse model.
Simultaneous quantitative estimation of galactose-1-phosphate and galactose in blood for the diagnosis of galactosemia.
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
The adult galactosemic phenotype.
The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: a possible cause for poor long-term prognosis in classic galactosemia.
Unusual presentation of galactosemia in a 4-month-old child.
[A case of atypical galactosemia(author's transl)]
[Association of thrombopenia due to platelet alloimmunization with galactosemia in the neonatal period]
[Effectiveness of the screening programme for galactosemia. New strategy in Poland]
[Efficacy of dietetic treatment in a case of galactosemia diagnosed late]
[Late neurologic complications of galactosemia: study of 3 cases]
Genetic Diseases, Inborn
Assessment of galactose-1-phosphate uridyltransferase activity in cells and tissues.
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
Hepatomegaly
Negative screening tests in classical galactosaemia caused by S135L homozygosity.
Neoplasms
Mouse monoclonal antibodies which recognize a human (beta 1-4)galactosyl-transferase associated with tumor in body fluids.
Ovarian Neoplasms
Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and endometriosis.
Primary Ovarian Insufficiency
Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age.
Pseudotumor Cerebri
Clinical features of galactokinase deficiency: a review of the literature.
Pyuria
Hemolysis due to Alpha-Hemolytic Enterococcus Urinary Infection: A Rare Cause of Early and Severe Unconjugated Hyperbilirubinemia in a Neonate.
Sepsis
Galactosemia: when is it a newborn screening emergency?
Tuberculosis
Identification of amino acids involved in catalytic process of M. tuberculosis GlmU acetyltransferase.
Mycobacterium tuberculosis AtsG (Rv0296c), GlmU (Rv1018c) and SahH (Rv3248c) Proteins Function as the Human IL-8-Binding Effectors and Contribute to Pathogen Entry into Human Neutrophils.
udp-glucose-hexose-1-phosphate uridylyltransferase deficiency
Diagnosis and management of galactosemia: an Egyptian experience.
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.
Functional analysis of GALT variants found in classic galactosemia patients using a novel cell-free translation method.
Galactose-1 phosphate uridyl transferase deficiency in the western grey kangaroo (Macropus fuliginosus; marsupialia): a model system for gene therapy studies.
GALT Deficiency Galactosemia.
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance.
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele.
[Efficacy of dietetic treatment in a case of galactosemia diagnosed late]
[The frequency of uridyl transferase deficiency in patients with galactose intolerance]