title: Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.
abstract: Lysinuric protein intolerance is an autosomal recessive metabolic disorder caused by defective transport of the cationic amino acids lysine, arginine and ornithine in the epithelial cells of the basolateral membrane in the small intestine and renal tubules. Mutations in the solute carrier family 7, member 7, SLC7A7, gene cause this multisystemic disease with a variety of clinical symptoms such as hepatosplenomegaly, osteoporosis, hypotonia, developmental delay, pulmonary insufficiency or end-stage renal disease. In the present study, genomic structure of SLC7A7 in six Turkish patients with lysinuric protein intolerance was examined in order to detect disease causing mutations by denaturing high pressure liquid chromatography and direct sequencing. Four novel mutations were identified in SLC7A7: c.223insGTC, p.Val74_Ile75insVal; c.283insTGG, p.Glu94_Thr95insTrp; c.344_347delTTGC, p.Leu115LeufsX53; and c.1099insT, p.Ile367TyrfsX16. Clinical and biochemical findings were evaluated together with these molecular analyses.
authors.affiliation: Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
authors.forename: Ayşegül
authors.initials: A
authors.lastname: Güzel-Ozantürk
authors.forename: Rıza Köksal
authors.initials: RK
authors.lastname: Ozgül
authors.forename: Ozlem
authors.initials: O
authors.lastname: Unal
authors.forename: Burcu
authors.initials: B
authors.lastname: Hişmi
authors.forename: Halil İbrahim
authors.initials: Hİ
authors.lastname: Aydın
authors.forename: Serap
authors.initials: S
authors.lastname: Sivri
authors.forename: Ayşegül
authors.initials: A
authors.lastname: Tokatlı
authors.forename: Turgay
authors.initials: T
authors.lastname: Coşkun
authors.forename: Erol
authors.initials: E
authors.lastname: Aksöz
authors.forename: Ali
authors.initials: A
authors.lastname: Dursun
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D027241:Amino Acid Transport System y+L; D044466:Asian People; D002648:Child; D005260:Female; D027301:Fusion Regulatory Protein 1, Light Chains / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D014421:Turkey; D055815:Young Adult
chemical_list: D027241:Amino Acid Transport System y+L; D027301:Fusion Regulatory Protein 1, Light Chains; C421261:SLC7A7 protein, human