Publications by authors named "Nadia Esseghir"
Article Synopsis
- Lysinuric protein intolerance is an inherited disorder caused by a defect in amino acid transport, linked to mutations in the SLC7A7 gene, primarily affecting Tunisian patients.
- Five affected children from consanguineous families exhibited serious symptoms like failure to thrive and mental retardation, with diagnosis confirmed through biochemical analysis and genetic testing.
- The study identified a common mutation (1471 delTTCT) in the Tunisian population, facilitating genetic counseling and prenatal diagnostic options for affected families.
Lysinuric protein intolerance (LPI, MIM# 222700) is an inherited aminoaciduria caused by defective transport of cationic amino acids (CAAs; arginine, lysine, ornithine) at the basolateral membrane of epithelial cells in the intestine and kidney. We report the first prenatal diagnosis by direct mutational analysis of LPI performed in a Tunisian family. An amniotic fluid sample was carried out at 16 weeks of gestation in a 32-year-old Tunisian woman who consulted for prenatal diagnosis.
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