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An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation

Article type: Other

Authors: Dayal, Devi; | Dekate, Parag | Sharda, Sheetal | Das, Ashim | Attri, Savita

Affiliations: Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India | Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Note: [] Corresponding Author: Devi Dayal, Department of Pediatrics, Advanced Pediatrics Center, Postgraduate Institute of Medical Education and Research, Chandigarh-160012, India. Tel.: +91 172 275 5657 (O), +91 172 277 2777 (R); Fax: +91 172 274 4401; 274 5078; E-mail: [email protected].

Keywords: Fanconi-Bickel syndrome, hypophosphatemic rickets, glycogen storage disease type XI

DOI: 10.3233/PGE-13056

Journal: Journal of Pediatric Genetics, vol. 2, no. 2, pp. 109-112, 2013

Received 19 March 2013
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Revision received 6 May 2013
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Accepted 10 May 2013
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Published: 2013
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Abstract

Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2) gene. It is characterized by hepatorenal glycogen accumulation, tubular nephropathy and impaired utilization of glucose and galactose. In this communication, we present the case of a 5-year-old girl who presented with deforming rickets and massive hepatomegaly. Liver biopsy confirmed the diagnosis of glycogen storage disorder. However, the mutation of the SLC2A2 (GLUT2) gene was not found. Mutation negative patients with characteristic Fanconi-Bickel syndrome phenotype suggest additional underlying mechanisms that need exploration.