ESPE Abstracts

Background: Fanconi–Bickel syndrome (FBS) is a rare autosomal recessive disorder characterised by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and severe short stature. It has been shown to be caused by mutations in GLUT2 gene, a member of the facilitative glucose transporter family.Results: Here, we report an Iranian family with two affected siblings. The clinical fin...

Background: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive metabolic disorder, characterized by recurrent painful swelling of long bones, periosteal new bone formation and cortical hyperostosis or intramedullary sclerosis, hyperphosphatemia and low intact fibroblast growth factor 23 (FGF23) protein levels. It is caused by mutations in two genes, N-acetylgalactosaminyltransferase 3 (GalNAc-transferase; GALNT3) and FGF23.<p class="abste...