title: Primary hyperoxaluria type 1 with a novel mutation.
abstract: Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene. We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents. The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal function.
authors.affiliation: Departments of Clinical Chemistry & Pediatrics, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Sidharth Kumar
authors.initials: SK
authors.lastname: Sethi
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.forename: Sonika
authors.initials: S
authors.lastname: Sharma
authors.forename: Alok
authors.initials: A
authors.lastname: Sharma
authors.forename: Pankaj
authors.initials: P
authors.lastname: Hari
authors.forename: Arvind
authors.initials: A
authors.lastname: Bagga
mesh_terms: D002129:Calcium Oxalate / Q000032:analysis; D005260:Female; D005700:Galactosyltransferases / Q000235:genetics*; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications / Q000235:genetics*; D007223:Infant; D007668:Kidney / Q000737:chemistry; D008297:Male; D009397:Nephrocalcinosis / Q000150:complications / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*
chemical_list: D002129:Calcium Oxalate; D005700:Galactosyltransferases; C511281:UDP-GalNAc pyrophosphorylase AGX1, human