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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Pena L, Charrow J. C ] – No cystinosis.

Inherited disorders of the renal tubules. The brush bicekl was normal. In their 8-year-old patient, Berry et al. Kashmir is a closed society with wide spread consanguinity, as a result autosomal recessive disorders are quite common here.

The renal tubular acidoses. Disorders of water and acid-base homeostasis. In such situations, RTA is further suspected if hyperchloremic metabolic acidosis shows delayed resolution[ 3536 ].

Fanconi-Bickel syndrome as an example of marked allelic heterogeneity

Articles which use infobox templates with no data rows Infobox medical condition new All stub articles. Ann Jose ankara escort. Oh M, Carroll HJ. Fanconi Bickel disease has autosomal recessive inheritance and cases have been reported from all parts of Europe, Turkey, Israel, Arabian countries of the Near East and North Africa, Japan, and North America [ 34 ].

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Patient was found to have proximal RTA and hepatomegaly with liver biopsy confirming hepatic glycogen deposition.

Fanconi Bickel Syndrome: A Rare Entity | OMICS International

Some FBS patients did not have any detected mutations in the protein-coding region of the GLUT2 gene[ 5758 ]; this situation could be explained by the presence of heterozygous long-range deletions which are not detectable with the usually applied PCR-based method[ 58 ]. The GLUT5 hexose transporter is also localized to the basolateral membrane of the human jejunum.

After oral and intravenous galactose loads there were severe and long-lasting hypergalactosemias. The fact that fructose is transported by a specific transport protein, GLUT5which is localized in the brush border and basolateral membrane of the intestine and kidney Blakemore et al. New insights into the pathogenesis of renal tubular acidosis–from functional to molecular studies. One nonsense mutation[ 66 ], a homozygous G-to-A transition at nucleotide in exon 9 was found and the four allelic variants published by Sakamoto et al[ 20 ].

A report on two siblings. Glycogenose hepato-renale avec tubulopathie complexe: In other words, discovery of new exons in a gene should make changes in exon re-numbering. We are determined to keep this website freely accessible. Glycogen storage disease type XI is a form of glycogen storage disease. Only comments written in English can be processed.

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They were homozygous for a single-base deletion in a stretch of 4 thymine residues positions to in exon 3 causing a frameshift with a premature TGA stop at codon 74 in the same exon, resulting in a truncated protein of 45 regular and 28 aberrant amino acids. However, galactose restriction did not restore renal tubular function or the children’s general fnaconi to normal.

Vickel mutations, translocation, and receptor function in diet sugar managing.

As determined radiologically by Manz et al. Polyuria, probably due to osmotic diuresis, was a constant finding. D ICD – Genetic counseling FBG is transmitted as an autosomal recessive trait.

Fanconi-Bickel syndrome as an example of marked allelic heterogeneity

Because of failure to thrive, polydipsia, and constipation at around the age of 6 months, the patient received vitamin D and calcium supplements. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.

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. Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis.

Journal List World J Nephrol v.