scholarly journals Phenotype–Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene

2011 ◽  
pp. 1-5
Author(s):  
Ariadna González-del Angel ◽  
José Velázquez-Aragón ◽  
Miguel A. Alcántara-Ortigoza ◽  
Marcela Vela-Amieva ◽  
Nancy Hernández-Martínez
Keyword(s):  
Galt Gene

scholarly journals Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene

2006 ◽  
Vol 8 (10) ◽  
pp. 635-640 ◽  
Author(s):  
Bradford Coffee ◽  
Lawrence N Hjelm ◽  
Angela Delorenzo ◽  
Ebony M Courtney ◽  
Chunli Yu ◽  
...  
Keyword(s):  
Galt Gene

scholarly journals Erratum to: A Case of Classical Galactosemia: Identification and Characterization of 3 Distinct Mutations in Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in a Single Family

2011 ◽  
Vol 78 (7) ◽  
pp. 894-894
Author(s):  
Ramandeep Singh ◽  
Gurjit Kaur ◽  
Babu R. Thapa ◽  
Rajendra Prasad ◽  
Ketan Kulkarni
Keyword(s):  
Single Family ◽  
Classical Galactosemia ◽  
Galt Gene ◽  
Identification And Characterization

scholarly journals Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure

Medicina ◽  
2019 ◽  
Vol 55 (4) ◽  
pp. 91 ◽  
Author(s):  
Alina Grama ◽  
Ligia Blaga ◽  
Alina Nicolescu ◽  
Călin Deleanu ◽  
Mariela Militaru ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Screening Program ◽  
Novel Mutation ◽  
Group B Streptococcus ◽  
Compound Heterozygous ◽  
Classic Galactosemia ◽  
Short Period ◽  
Galt Gene ◽  
Group B

Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism. Bacterial infections are a known cause of early morbidity and mortality in children with classic galactosemia. The most common agent is Escherichia coli, but in rare situations, other bacteria are incriminated. We report a case of a three-week-old female patient with galactosemia, who presented with Group B Streptococcus (GBS) meningitis/sepsis. She received treatment with antibiotics, supportive therapy, and erythrocyte transfusion, but after a short period of improvement, she presented acute liver failure with suspicion of an inborn error of metabolism. Rapid nuclear magnetic resonance (NMR) spectroscopy from urine showed highly elevated values of galactose and galactitol. Under intensive treatment for acute liver failure and with a lactose-free diet, her clinical features and laboratory parameters improved considerably. Genetic testing confirmed compound heterozygous status for GALT mutations: c.563 A>G [p.Q188R] and c. 910 C>T, the last mutation being a novel mutation in GALT gene. In countries without an extensive newborn screening program, a high index of suspicion is necessary for early diagnosis and treatment of galactosemia.

Linkage or association to the GALT gene on chromosome 9 is not demonstrable in endometriosis

2002 ◽  
Vol 77 ◽  
pp. S20 ◽  
Author(s):  
R.T. Geirsson ◽  
H. Stefansson ◽  
J. Kristin ◽  
A. Einarsdottir ◽  
M. Frigge ◽  
...  
Keyword(s):  
Chromosome 9 ◽  
Galt Gene

scholarly journals Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples

2018 ◽  
Vol 3 (2) ◽  
pp. 222-230 ◽  
Author(s):  
Tatiana Yuzyuk ◽  
Andrew R Wilson ◽  
Rong Mao ◽  
Marzia Pasquali
Keyword(s):  
Dietary Intervention ◽  
Finite Mixture Models ◽  
Gene Analysis ◽  
Molecular Testing ◽  
Reference Ranges ◽  
Galactose Metabolism ◽  
Galt Activity ◽  
Classic Galactosemia ◽  
Galt Gene ◽  
Life Threatening

Abstract Background Classic galactosemia is an inherited disorder of galactose metabolism caused by the impaired activity of galactose-1-phosphate uridyltransferase (GALT). Untreated galactosemia is life-threatening; however, early dietary intervention prevents mortality and reduces morbidity associated with this disease. The diagnosis of galactosemia includes the measurement of GALT activity in red blood cells (RBC) and GALT gene analysis. In this study, we evaluate GALT activity in different genotypes using the results of combined biochemical and molecular testing in 927 samples. Methods GALT activity in RBC was measured by LC-MS/MS. The analysis of the GALT gene was performed by targeted gene analysis and/or full gene sequencing. Samples were assigned based on the presence of pathogenic (G) or Duarte 2 (D) variants, or their absence (Neg), to G/G, D/G, G/Neg, D/D, D/Neg, and Neg/Neg genotypes. Finite mixture models were applied to investigate distributions of GALT activities in these genotypes. The reference ranges were determined using the central 95% of values of GALT activities. Results The ranges of GALT activity in G/G, D/G, G/Neg, D/D, D/Neg, and Neg/Neg genotypes are 0.0 to 0.7 μmol·h−1 gHb−1, 3.1 to 7.8 μmol·h−1 gHb−1, 6.5 to 16.2 μmol·h−1 gHb−1, 6.4 to 16.5 μmol·h−1 gHb−1, 12.0 to 24.0 μmol·h−1 gHb−1, and 19.4 to 33.4 μmol·h−1 gHb−1, respectively. Conclusions The GALT activity ranges established in this study are in agreement with the expected impact of the genotype on the enzymatic activity. Molecular findings should be interpreted in view of biochemical results to confirm genotype–phenotype correlation.

Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene

2007 ◽  
Vol 30 (5) ◽  
pp. 818-818 ◽  
Author(s):  
F. R. O. Calderon ◽  
L. Nelson ◽  
P. Dobrowolski ◽  
I. Sinitsyna ◽  
A. Phansalkar ◽  
...  
Keyword(s):  
Enzyme Analysis ◽  
Specific Pcr ◽  
Galt Gene ◽  
Allele Specific ◽  
Allele Specific Pcr

scholarly journals Induction of Cytolytic Anti-Gal Antibodies in α-1,3-Galactosyltransferase Gene Knockout Mice by Oral Inoculation with Escherichia coli O86:B7 Bacteria

2002 ◽  
Vol 70 (11) ◽  
pp. 6215-6222 ◽  
Author(s):  
Karla J. Posekany ◽  
H. Keith Pittman ◽  
John F. Bradfield ◽  
Carl E. Haisch ◽  
Kathryn M. Verbanac
Keyword(s):  
Escherichia Coli ◽  
Gene Knockout ◽  
Small Animal ◽  
Enteric Bacteria ◽  
Cytolytic Activity ◽  
Target Cells ◽  
E Coli ◽  
Oral Inoculation ◽  
Galt Gene ◽  
Gene Knockout Mice

ABSTRACT Naturally occurring antibodies against [Gal α-1,3-Gal] structures (anti-Gal antibodies) are the primary effectors of human hyperacute rejection (HAR) of nonhuman tissue. Unlike most mammals, humans lack a functional α-1,3-galactosyltransferase (GalT) gene and produce abundant anti-Gal antibodies, putatively in response to GalT+ enteric bacteria. GalT knockout (KO) mice have been generated as a small animal model of HAR but inconsistently express anti-Gal antibodies. We hypothesized that enteric exposure of GalT KO mice to live GalT+ bacteria would produce cytolytic anti-Gal antibodies. Naive mice lacking anti-Gal antibodies were orally immunized with 1010 live GalT+ Escherichia coli O86:B7 bacteria and assayed for anti-Gal antibody titer, isotype, and cytolytic activity. Fecal samples were tested for E. coli O86:B7 prior to and after inoculation. In two separate experiments, 77 to 100% (n = 31) of mice developed serum anti-Gal immunoglobulin G (IgG; titer, 1:5 to 1:80) and/or anti-Gal IgM antibodies (titer, 1:5 to 1:1,280) 14 days postinoculation. Induced anti-Gal antibodies caused complement-mediated cytolysis of GalT+ target cells, with extensive cytolysis observed consistently at serum IgM titers of ≥1:320. Absorption with synthetic [Gal α-1,3-Gal] inhibited both antibody binding and cytolysis. E. coli O86:B7 was recovered from stool samples from 83 to 94% of inoculated mice but not from naive mice, thus confirming enteric exposure. These findings demonstrate that oral inoculation with E. coli O86:B7 is a novel and effective method to induce cytolytic anti-Gal antibodies in GalT KO mice and support the premise that enteric exposure to GalT+ bacteria induces anti-Gal antibodies in humans. These studies also suggest a role for GalT KO mice in elucidating anti-Gal responses in microbial immunity.

Analysis of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene in a Duarte Variant/classical Galactosemia (D/G) Compound Heterozygote

2003 ◽  
Vol 6 (1) ◽  
pp. 84
Author(s):  
Hye Ran Yang ◽  
Jeong Eun Kim ◽  
Jae Sung Ko ◽  
Jung Han Song ◽  
Sung Sup Park ◽  
...  
Keyword(s):  
Compound Heterozygote ◽  
Classical Galactosemia ◽  
Galt Gene

scholarly journals Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia

2021 ◽  
Author(s):  
Jennifer M.I. Daenzer ◽  
Shauna A. Rasmussen ◽  
Sneh Patel ◽  
James McKenna ◽  
Judith L. Fridovich‐Keil
Keyword(s):  
Rat Model ◽  
Early Adulthood ◽  
Gene Replacement ◽  
Classic Galactosemia ◽  
Galt Gene

scholarly journals Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified

Medicina ◽  
2020 ◽  
Vol 56 (11) ◽  
pp. 559
Author(s):  
Rūta Rokaitė ◽  
Rasa Traberg ◽  
Mindaugas Dženkaitis ◽  
Rūta Kučinskienė ◽  
Liutauras Labanauskas
Keyword(s):  
Clinical Symptoms ◽  
Genetic Disorder ◽  
Central Nervous System Damage ◽  
Classical Galactosemia ◽  
E Coli ◽  
Impaired Metabolism ◽  
Galt Gene ◽  
Liver And Kidney ◽  
Wide Scale ◽  
Kidney Insufficiency

Galactosemia is a rare autosomal recessive genetic disorder that causes impaired metabolism of the carbohydrate galactose. This leads to severe liver and kidney insufficiency, central nervous system damage and long-term complications in newborns. We present two clinical cases of classical galactosemia diagnosed at the Lithuanian University of Health Sciences (LUHS) Kaunas Clinics hospital and we compare these cases in terms of clinical symptoms and genetic variation in the GALT gene. The main clinical symptoms were jaundice and hepatomegaly, significant weight loss, and lethargy. The clinical presentation of the disease in Patient 1 was more severe than that in Patient 2 due to liver failure and E. coli-induced sepsis. A novel, likely pathogenic GALT variant NM_000155.4:c.305T>C (p.Leu102Pro) was identified and we believe it could be responsible for a more severe course of the disease, although further study is needed to confirm this. It is very important to suspect and diagnose galactosemia as early in its course as possible, and introduce lactose-free formula into the patient’s diet. Wide-scale newborn screening and genetic testing are particularly crucial for the early detection of the disease.

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