Fanconi-Bickel Syndrome: A Review Of The Mechanisms That Lead To Dysglycaemia
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES(2020)
Abstract
Accumulation of glycogen in the kidney and liver is the main feature of Fanconi-Bickel Syndrome (FBS), a rare disorder of carbohydrate metabolism inherited in an autosomal recessive manner due toSLC2A2gene mutations. Missense, nonsense, frame-shift (fs), in-frame indels, splice site, and compound heterozygous variants have all been identified inSLC2A2gene of FBS cases. Approximately 144 FBS cases with 70 differentSLC2A2gene variants have been reported so far.SLC2A2encodes for glucose transporter 2 (GLUT2) a low affinity facilitative transporter of glucose mainly expressed in tissues playing important roles in glucose homeostasis, such as renal tubular cells, enterocytes, pancreatic beta-cells, hepatocytes and discrete regions of the brain. Dysfunctional mutations and decreased GLUT2 expression leads to dysglycaemia (fasting hypoglycemia, postprandial hyperglycemia, glucose intolerance, and rarely diabetes mellitus), hepatomegaly, galactose intolerance, rickets, and poor growth. The molecular mechanisms of dysglycaemia in FBS are still not clearly understood. In this review, we discuss the physiological roles of GLUT2 and the pathophysiology of mutants, highlight all of the previously reportedSLC2A2mutations associated with dysglycaemia, and review the potential molecular mechanisms leading to dysglycaemia and diabetes mellitus in FBS patients.
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Key words
Fanconi-Bickel Syndrome (FBS),GLUT2 dysfunction,dysglycaemia,liver,pancreatic beta cell,cAMP,insulin secretion,birth weight,hepatomegaly
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