Top

Published in:

01-01-2012 | Clinical Brief

Fanconi–Bickel Syndrome

Authors: Mohandas Nair K, Osamu Sakamoto, Sujatha Jagadeesh, Sheela Nampoothiri

Published in: Indian Journal of Pediatrics | Issue 1/2012

Abstract

We Present the first mutation proven case of Fanconi–Bickel syndrome, a rare type of glycogen storage disease, from India. A four-year-old girl presented with severe growth retardation, genu varum and hepatomegaly. Investigations confirmed severe hypophosphatemic rickets and Fanconi syndrome. Molecular analysis confirmed a homozygous deletion insertion mutation in Glut 2 gene.

Santer R, Steinmann B, Schaub J. Fanconi–Bickel syndrome—a congenital defect of facilitative glucose transport. Curr Mol Med. 2002;2:213–27.PubMedCrossRef

Fanconi G, Bickel H. Die chronische Aminoacidurie (Aminosäurediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit. Helv Paediatr acta. 1949;4:359–96.

Furlan F, Santer R, Vismara E, et al. Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome. J Inherit Metab Dis. 2006;29:685.PubMedCrossRef

Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B. Eur J Pediatr. 1998;157:783–97.PubMedCrossRef

Taha D, Al-Harbi N, Al-Sabban E. Hyperglycemia and hypoinsulinemia in patients with Fanconi–Bickel syndrome. J Pediatr Endocrinol Metab. 2008;6:581–6.

Sakamato O, Ogawa E, Ohura T, et al. Mutation analysis of the GLUT2 gene in patients with Fanconi–Bickel syndrome. Pediatr Res. 2000;48:586–9.CrossRef

Scheepers A, Joost HG, Schürmann A. The glucose transporter families SGLT and GLUT: molecular basis of normal and aberrant function. J Parenter Enteral Nutr. 2004;28:364–7.CrossRef

Lee PJ, Van’t Hoff WG, Leonard JV. Catch-up growth in Fanconi–Bickel syndrome with uncooked cornstarch. J Inherit Metab Dis. 1995;18:153–6.PubMedCrossRef

Title: Fanconi–Bickel Syndrome
Authors: Mohandas Nair K
Osamu Sakamoto
Sujatha Jagadeesh
Sheela Nampoothiri
Publication date: 01-01-2012
Publisher: Springer-Verlag
Published in: Indian Journal of Pediatrics / Issue 1/2012
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-011-0373-5

At a glance: The STEP trials

Springer Medicine

Fanconi–Bickel Syndrome

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 1/2012

Hypercalcemia in Extremely Low Birth Weight Neonates

Current Concepts in Growth Hormone Therapy

Phenotype-Genotype Correlations in Congenital Isolated Growth Hormone Deficiency (IGHD)

Tuberous Sclerosis Complex: Imaging Findings

History of Growth Hormone Therapy

Facility Based IMNCI