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A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis.
- Source :
-
The Turkish journal of pediatrics [Turk J Pediatr] 2017; Vol. 59 (6), pp. 693-695. - Publication Year :
- 2017
-
Abstract
- Taştemel-Öztürk T, Bilginer-Gürbüz B, Tekşam Ö, Sivri S. A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis. Turk J Pediatr 2017; 59: 693-695. Fanconi-Bickel syndrome is a rare autosomal recessive disorder of carbohydrate metabolism, caused by mutations in the SLC2A2 gene, that codes for the glucose transporter protein 2 (GLUT2). The disease is characterized by proximal renal tubular dysfunction, impaired glucose and galactose utilization, and accumulation of glycogen in the liver and kidney. Signs and symptoms of Fanconi-Bickel syndrome begin in infancy and include failure to thrive, hepatomegaly, hypophosphatemic rickets, and short stature. Here in we report a Turkish Fanconi-Bickel syndrome case who also has situs inversus totalis and a novel mutation that has not been described before.
Details
- Language :
- English
- ISSN :
- 2791-6421
- Volume :
- 59
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- The Turkish journal of pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 30035403
- Full Text :
- https://doi.org/10.24953/turkjped.2017.06.012