Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance

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,...

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Bibliographic Details
Published in:Gene 2013-06, Vol.521 (2), p.293-295
Main Authors: Güzel-Ozantürk, Ayşegül, Özgül, Rıza Köksal, Ünal, Özlem, Hişmi, Burcu, Aydın, Halil İbrahim, Sivri, Serap, Tokatlı, Ayşegül, Coşkun, Turgay, Aksöz, Erol, Dursun, Ali
Format: Article
Language:English
Subjects:
Adolescent
Adult
Amino Acid Metabolism, Inborn Errors - genetics
arginine
Asian Continental Ancestry Group
Cationic amino acids
Child
epithelial cells
Female
Fusion Regulatory Protein 1, Light Chains - genetics
genes
high performance liquid chromatography
Humans
Hyperammonemia
kidney diseases
lysine
Lysinuric protein intolerance
Male
metabolic diseases
Mutation
ornithine
osteoporosis
patients
renal tubules
SLC7A7
small intestine
Turkey
y+LAT-1
Young Adult
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Summary: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. •Six patients with lysinuric protein intolerance were presented in this study.•As a result of mutation screening, four novel mutations were identified.•Clinical and biochemical findings were evaluated together with molecular analysis.
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2013.03.033