FANCONI BICKEL SYNDROME PDF

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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PL mutation can be easily and unambiguously recognized irrespective of its exon number, especially for experts in this lesion, with no difficulty in locating it within GLUT2 gene. Investigations revealed normal serum calcium 9. Case Report Open Access. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and fanconu in any medium, provided the original author and source are credited.

Table 1 Chromosomal mapping of some inherited forms of proximal renal tubular acidosis[ 496970 ]. Molecular pathophysiology of tubular transport disorders. Clinical description Onset occurs during the first few months of life with failure to thrive, polyuria and rickets related to proximal tubular losses.

Glycogen storage disease type XI

A number sign is used with this entry because of evidence that Fanconi-Bickel syndrome is caused by homozygous or compound heterozygous mutations in the GLUT2 gene on chromosome 3q Our index case presented at 8 months of age with progressively increasing abdominal distension and rickets. Diagnostic methods Diagnosis may fanconii 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.

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The long-term prognosis is unknown. Pharmaceutical Sciences Journals Ann Jose ankara escort.

Orphanet: Glycogen storage disease due to GLUT2 deficiency

Agri fanoni Aquaculture Journals Dr. Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein. Glu85fs ; 3 Two new mutations were found as well as the third known mutation; and 4 All affected cases were homozygous and all the heterozygous individuals were asymptomatic. On the other hand, the highly conserved valto-ile amino acid change abolished transport activity of the GLUT2 transporter expressed in Xenopus oocytes.

The first symptoms were fever, vomiting, growth failure, and rickets at the age of 3 to 10 months. Generalized hyperaminoaciduria, moderate hyperphosphaturia, hyperuricosuria, and hypercalciuria were constant findings, and mild proteinuria was exclusively of tubular origin. Long syndromf X-ray in our patient showed florid rickets.

Glycogen storage disease type XI – Wikipedia

Two bicke, mutations have been discovered in two unrelated Egyptian families. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. However, several cases of FBG have been detected through neonatal screening of galactose levels. A generalized transport defect was suggested. Among the members of the facilitative glucose transporter family, Santer et al.

Unwin RJ, Capasso G. Molecular analysis on three Japanese patients found four novel mutations: Other search option s Alphabetical list. Support Center Support Center. C ] – No cystinosis.

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Mueckler et al[ 53 ] tested the effect of these amino acid changes on glucose transport activity by expression of the mutant proteins in Xenopus oocytes. The principal investigator made the mutation analysis for the three Egyptian families, including the two new allelic variants.

In summary we presented a case of Fanconi Bickel syndrome, an 8 month old male child with previous 2 sib deaths presented to us with progressively increasing abdominal distension and rickets. Physiology Bethesda ; A practical syndrime to genetic hypokalemia.

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Metabolic bone disease is frequent in Fanconi syndrome secondary to excessive losses of phosphates and calcium, nephrocalcinosis and hypercalciuria are common in patients with distal RTA[ 39 ] and muscle weakness in hypokalemic patients[ 40 ].

Glycogen storage disease type XI Glycogen storage disease type XI is a form of glycogen storage disease.

On extensive investigation we documented proximal renal tubular dysfunction in the form of glycosuria, phosphaturia, proteinuria and bicorbonaturia. The renal tubular dysfunction persists into adulthood but in most cases does not appear to progress to renal failure. The impairment of intestinal monosaccharide absorption is not sufficient to prevent the increase of plasma glucose above the normal range Aperia et al. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.