A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome

Enver Şimşek, Şenay Savaş-Erdeve, Osamu Sakamoto, Tümay Doǧanci, Yildiz Dallar

研究成果: Article査読

6 被引用数 (Scopus)

抄録

Fanconi-Bickel syndrome is a rare inherited disorder of carbohydrate metabolism. The disease is characterized by the association of a massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets and marked growth retardation due to proximal renal tubular dysfunction. Fanconi-Bickel syndrome is a single gene disease and is caused by defects in the facilitative glucose transporter 2 (GLUT2) gene (SLC2A2) on chromosome 3q26.1-26.3, which encodes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic beta-cells, enterocytes, and renal tubular cells. Several mutations in a gene encoding a glucose transporter have been reported in patients with Fanconi-Bickel syndrome. Here we report a Turkish child who had a novel mutation that has not been described before and we discuss the knowledge regarding genetic mutations in this rare disease.

本文言語English
ページ(範囲)166-168
ページ数3
ジャーナルTurkish Journal of Pediatrics
51
2
出版ステータスPublished - 2009 6 19

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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