title: A case of classical galactosemia: identification and characterization of 3 distinct mutations in galactose-1-phosphate uridyl transferase (GALT) gene in a single family.
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.
authors.affiliation: Department of Biochemistry, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India.
authors.forename: Ramandeep
authors.initials: R
authors.lastname: Singh
authors.forename: Gurjit
authors.initials: G
authors.lastname: Kaur
authors.forename: Babu R
authors.initials: BR
authors.lastname: Thapa
authors.forename: Rajendra
authors.initials: R
authors.lastname: Prasad
authors.forename: Ketan
authors.initials: K
authors.lastname: Kulkarni
mesh_terms: D001483:Base Sequence; D018389:Codon, Nonsense; D004247:DNA / Q000737:chemistry; D004252:DNA Mutational Analysis; D005260:Female; D005693:Galactosemias / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007194:India; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D004247:DNA; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase