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

scholarly journals A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature

2020 ◽  
Vol Volume 13 ◽  
pp. 1613-1620
Author(s):  
Jie Chen ◽  
Shiying Luo ◽  
Ning Li ◽  
Huimin Li ◽  
Jinming Han ◽  
...  
Keyword(s):  
Case Report ◽  
Missense Mutation ◽  
Review Of Literature

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.

Clinical response to ustekinumab in CARD14 ‐associated papulosquamous eruption (CAPE) with a new missense mutation in CARD14 : a case report and systematic review

2020 ◽  
Vol 34 (11) ◽  
Author(s):  
L.M. Nieto‐Benito ◽  
O. Baniandrés‐Rodríguez ◽  
A. Moreno‐Torres ◽  
A. Hernández‐Martín ◽  
A. Torrelo‐Fernández ◽  
...  
Keyword(s):  
Systematic Review ◽  
Case Report ◽  
Clinical Response ◽  
Missense Mutation

Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: A case report

2006 ◽  
Vol 95 (12) ◽  
pp. 1703-1706 ◽  
Author(s):  
Evangelia Stefanaki ◽  
Vasiliki Aggelakou ◽  
M. Orfanou ◽  
E. Kokori ◽  
S. Boutoufianakis
Keyword(s):  
Case Report ◽  
Sodium Channel ◽  
Missense Mutation ◽  
De Novo ◽  
Subunit A
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