Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia

Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia

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 to <i>SLC2A2</i> gene mutations. Missense, nonsense, frame-shift (fs), in-frame indels, splice...

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Bibliographic Details
Main Authors: Sanaa Sharari, Mohamad Abou-Alloul, Khalid Hussain, Faiyaz Ahmad Khan
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:International Journal of Molecular Sciences
Subjects:
Fanconi–Bickel Syndrome (FBS)
<i>SLC2A2</i> mutation
GLUT2 dysfunction
dysglycaemia
liver
pancreatic β cell
Online Access:https://www.mdpi.com/1422-0067/21/17/6286

Internet

https://www.mdpi.com/1422-0067/21/17/6286

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