ORPHA Synonym(s). Bickel-Fanconi glycogenosis; Fanconi-Bickel disease; GSD due to GLUT2 deficiency; GSD type 11; GSD type XI; Glycogen storage. Fanconi-Bickel syndrome (FBS) is a rare inherited glycogen storage disease ( GSD) caused by defects in facilitative Glucose Transporter (GLUT2) gene that. NIH Rare Diseases: Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the.
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A practical approach to genetic hypokalemia. HCO3- cotransporter in health and disease processes. Molecular pathophysiology of renal tubular acidosis. Nelson text book of pediatrics. It is associated with GLUT2  a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons, and enterocytes symdrome the intestines, and enter the blood.
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. Fractures and pancreatitis were complications.
Clinical course, response to treatment, and prognosis. Radiological, bone survey revealed diffuse osteopenia with rachitic triad; cupping, fraying and widening of metaphysical ends Figure 1.
The disorder has been reported from all parts of Europe, Turkey, Israel, Arabian countries. Various enzymes and metabolites indicated regular function of glycolysis, hexose-monophosphate shunt, and Krebs cycle in the liver.
Use of the term glycogenosis type XI introduced by Hug is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport. Organization of the human GLUT2 pancreatic beta-cell and hepatocyte glucose transporter gene. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
Generalized osteopenia leading to fractures during childhood, with osteoporosis later in life, has also been reported. These mutations represent the first detection of a congenital defect within a whole family of membrane proteins facilitative glucose transporters. Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested Berry et al.
The documents contained in this web site are presented for information purposes only. The third mutation had previously been described in Arab families from Saudi Arabia[ 62 ]; a missense mutation C-to-T substitution at c. Disorders of water and acid-base homeostasis.
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity
Fanconi-Bickel syndrome–a congenital blckel of facilitative glucose transport. National Center for Biotechnology InformationU. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Permeability defect with bicarbonate leak as a mechanism of immune-related distal renal tubular acidosis. Liver span was 12 cm.
Chromosomal mapping of some inherited forms of proximal renal tubular acidosis[ 496970 ]. Bagga A, Sinha A.
Furthermore, the cases demonstrated that failure to thrive because of intestinal malabsorption can be a presenting sign of FBS in infancy and that hepatomegaly is not a ‘conditio sine qua non’ for the diagnosis of FBS. Molecular developments in renal tubulopathies. Diagnosis may be suspected on the basis of the clinical manifestations, radiological findings revealing rickets, and from characteristic results from laboratory investigations showing proximal renal tubular dysfunction massive glucosuria, proteinuria, phosphaturia, hypophosphatemia, aminoaciduria and hyperuricemia.
ABG analysis revealed compensated metabolic acidosis pH 7. InfancyNeonatal ICD Author information Article notes Copyright and License information Disclaimer. Agri and Aquaculture Journals Dr. Nelson Textbook of Pediatrics.
Fanconi Bickel Syndrome: A Rare Entity | OMICS International
Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. Case Report Open Access. So a case of Fanconi- Bickel disorder was confirmed based on above symptoms and laboratory investigations.
Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis. July 26, ; Published date: Pena L, Charrow J. For all other comments, please send your remarks via contact us. In other words, discovery of new exons in a gene should make changes in exon re-numbering.
Gitzelmann gave a follow-up of the patient reported by Fanconi and Bickel at age 12 years and described relative resistance to glucagon. Blood and urine compounds were characteristic of FBS Steinmann, Many mutant alleles have been described, the exact frequency of the disease or each mutation is not known and there is no reported single mutation found more frequently than the others.
Am J Physiol Endocrinol Metab.