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Article

Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene.

Clinical and experimental nephrology - 1 Oct 2011

Gopalakrishnan Arun, Kumar Manish, Krishnamurthy Sriram, Sakamoto Osamu, Srinivasan Sadagopan

Abstract excerpt

Fanconi-Bickel syndrome is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilization of glucose and galactose. Most cases have been reported from Europe, Japan, Turkey and the Mediterranean belt. We report a 3-year-old boy from southern India who presented with doll-like facies, florid rickets, massive hepatomegaly, growth...

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PMID: 21625891
DOI: 10.1007/s10157-011-0456-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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