What is the role of glycogen-storage diseases in Fanconi syndrome?

Updated: Feb 09, 2018
  • Author: Sahar Fathallah-Shaykh, MD; Chief Editor: Craig B Langman, MD  more...
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Answer

Glycogen-storage diseases comprise a group of conditions that have inherited defects in glycogen metabolism as a common denominator. The most frequently affected tissues are the liver and the muscles. A Fanconi syndrome ensues only in those forms of the syndrome in which the deposition of glycogen in the renal tubules interferes with the generation of ATP.

The typical example is Fanconi-Bickel syndrome, characterized by impaired galactose use and the deposition of glycogen in liver and proximal tubule cells. The syndrome is caused by homozygosity or compound heterozygosity for mutations of the facilitated glucose transporter 2 gene (GLUT2). The patient presents in infancy with failure to thrive, hepatosplenomegaly, and rickets. Neonatal presentation with hyperglycemia and polyuria has been reported.

Fanconi-Bickel syndrome can be confused with type I glycogen storage disease, which is caused by a deficiency in glucose-6-phosphatase activity. This latter group of patients present in the newborn period, or shortly thereafter, with severe hypoglycemia and lactic acidosis. Renal disease is usually a late complication. The treatment of children with Fanconi-Bickel syndrome is symptomatic.


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