Abstract
Galactosemia is an autosomal recessive disorder of galactose metabolism. In the very first instance of its kind from India, the authors report the presence of three different galatose-1-phosphate uridyl transferase (GALT) gene mutations, associated with galactosemia, in a single Indian family. One of the three mutations, S307X, is a novel mutation (GenBank Accession number GQ355273) and is of nonsense nature causing the truncation of the GALT protein resulting in the decreased enzyme activity. The authors have also emphasized the importance of introduction of new born screening program for galactosemia and its genetic analysis in select settings across the country.
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Acknowledgements
We are indebt to the parents of the patient for their cooperation. We would also like to acknowledge the complete financial assistance extended by the Department of Biotechnology, Ministry of Science and Technology, Government of India (BT/PR/6344/MED/14/783/2005).
Contributions
RS; Carried out the genetic analysis and prepared the manuscript, GK; Estimation of enzyme activity, BRT; Clinical evaluation of the case, RP; Designed and conceptualized the study.
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None.
Role of funding source
Department of Biotechnology, Ministry of Science and Technology, Government of India, financially supported the study (BT/PR/6344/MED/14/783/2005).
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An erratum to this article can be found at http://dx.doi.org/10.1007/s12098-011-0498-6
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Singh, R., Kaur, G., Thapa, B.R. et al. A Case of Classical Galactosemia: Identification and Characterization of 3 Distinct Mutations in Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in a Single Family. Indian J Pediatr 78, 874–876 (2011). https://doi.org/10.1007/s12098-010-0348-y
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DOI: https://doi.org/10.1007/s12098-010-0348-y