A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis

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TAŞTEMEL ÖZTÜRK T., BİLGİNER GÜRBÜZ B., TEKŞAM Ö., Sivri S.

TURKISH JOURNAL OF PEDIATRICS, cilt.59, sa.6, ss.693-695, 2017 (SCI-Expanded, Scopus, TRDizin)

Özet

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.