scholarly journals 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

2013 ◽  
pp. 91-98 ◽  
Author(s):  
Rena Papachristoforou ◽  
Petros P. Petrou ◽  
Hilary Sawyer ◽  
Maggie Williams ◽  
Anthi Drousiotou
Keyword(s):  
Large Deletion ◽  
Classic Galactosemia ◽  
Receptor Alpha ◽  
Galt Gene ◽  
Interleukin 11

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.

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.

Associations between promoter polymorphism -106A/G of interleukin-11 receptor alpha and papillary thyroid cancer in Korean population

Surgery ◽  
2012 ◽  
Vol 151 (2) ◽  
pp. 323-329 ◽  
Author(s):  
Young Gyu Eun ◽  
Il Ho Shin ◽  
Mi-Ja Kim ◽  
Joo-Ho Chung ◽  
Jeong Yoon Song ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Promoter Polymorphism ◽  
Korean Population ◽  
Papillary Thyroid ◽  
Receptor Alpha ◽  
Interleukin 11

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 Cloning of rat interleukin 11 and interleukin 11 receptor alpha chain and analysis of their expression in rat uterus in the peri-implantation period

Reproduction ◽  
2001 ◽  
pp. 593-600 ◽  
Author(s):  
R Li ◽  
L Hartley ◽  
L Robb
Keyword(s):  
Rat Uterus ◽  
Rnase Protection ◽  
Receptor Alpha ◽  
Alpha Chain ◽  
Genes Encoding ◽  
Interleukin 11 ◽  
Implantation Period ◽  
Receptor Alpha Chain

Studies in mice have shown that interleukin 11 (IL-11) signalling is required for female fertility. In the absence of IL-11, decidualization is markedly retarded and implantation fails. IL-11 acts via a heterodimeric receptor composed of a ligand-specific receptor alpha chain (IL-11R alpha) and the signalling moiety gp130. This study reports the cloning of genes encoding rat IL-11 and IL-11R alpha. RNase protection was used to demonstrate that expression of IL-11 is upregulated in the rat uterus at the initiation of implantation at 5.5 days after mating. Expression of the genes encoding the two receptor components, IL11Ra and gp130, did not change throughout the peri-implantation period. In situ hybridization studies revealed that, as in mice, expression of IL-11 was high in the primary decidual zone at the time of the attachment reaction, whereas IL11Ra was expressed throughout primary and secondary decidua. Conservation of the temporal and spatial expression of IL-11 and IL-11R alpha in the uterus of the mouse and rat during the peri-implantation period will facilitate future studies investigating the role of IL-11 in fertility.

Characterization and expression analysis of the chicken interleukin-11 receptor alpha chain

2005 ◽  
Vol 29 (4) ◽  
pp. 349-359 ◽  
Author(s):  
Tsuyoshi Kawashima ◽  
Shintaro Hojyo ◽  
Norihisa Nishimichi ◽  
Masaharu Sato ◽  
Masayoshi Aosasa ◽  
...  
Keyword(s):  
Expression Analysis ◽  
Receptor Alpha ◽  
Alpha Chain ◽  
Interleukin 11 ◽  
Receptor Alpha Chain

Monoclonal antibodies against the human interleukin-11 receptor alpha-chain (IL-11Rα) and their use in studies of human mononuclear cells

2000 ◽  
Vol 241 (1-2) ◽  
pp. 43-59 ◽  
Author(s):  
Chrystel Blanc ◽  
Patricia Vusio ◽  
Karin Schleinkofer ◽  
Olivier Boisteau ◽  
Stefan Pflanz ◽  
...  
Keyword(s):  
Monoclonal Antibodies ◽  
Mononuclear Cells ◽  
Receptor Alpha ◽  
Alpha Chain ◽  
Human Mononuclear Cells ◽  
Interleukin 11 ◽  
Receptor Alpha Chain

A novel missense mutation (c.516A>T; p.Glu172Asp) in the GALT gene as a cause of classic galactosemia: A case report

Gene Reports ◽  
2021 ◽  
pp. 101297
Author(s):  
Mohammad Javad Ghorbani ◽  
Hossein Moravej ◽  
Anis Amirhakimi ◽  
Bita Geramizadeh ◽  
Mehdi Kalani ◽  
...  
Keyword(s):  
Case Report ◽  
Missense Mutation ◽  
Classic Galactosemia ◽  
Galt Gene
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