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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It is fancohi with GLUT2[3] [4] a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons, and enterocytes of the intestines, and enter the blood.

Die chronische Aminoacidurie Aminosaeurediabetes oder nephrotisch-glukosurischer Zwergwuchs bei der Glykogenose und der Cystinkrankheit.

Proximal renal tubular dysfunction is documented by glucosuria, phosphaturia, generalized aminoaciduria, bicarbonate wasting and hypophosphatemia[ 24 – 28 ]. The presence of consanguinity in affected families suggests an autosomal recessive pattern of inheritance.

Fanconi-Bickel syndrome as an example of marked allelic heterogeneity

Rickets and osteoporosis later in life were constant features. 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. A homozygous missense mutation, SLC2A2, PROLEU, was described in a large family with a high degree of consanguinity; it showed several affected individuals of both sexes, markedly reduced liver phosphorylase kinase activity was found in association with the characteristic clinical features and laboratory findings of FBS[ 61 ], thus suggesting that FBS is genetically heterogeneous and that there may be another subtype of PHK deficiency possibly associated with a distinctive genotype that gives rise to hepatorenal glycogenosis.

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OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. J Clin Case Rep 6: J Synrrome Soc Med. Only comments seeking to improve the quality and accuracy of information on eyndrome Orphanet website are accepted.

Tubular nephropathy was characterized by excessive glucosuria mean 10 to 30 g per day, up to 60 gand moderate hyperphosphaturia in the presence of constant hypophosphatemia, hyperuricemia, hyperaminoaciduria, and intermittent albuminuria.

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Many mutant alleles have been described, its exact frequency is unknown and there is no single mutation found more frequently than the others. Furthermore, phosphoglucomutase activity was not reduced in this patient, an important finding.

Int J Biochem Cell Biol. However, Burwinkel et al. Investigations revealed normal serum calcium 9.

However, acidosis with a high gap more than 20 rules out RTA and suggests added anions, whether endogenous lactic acidosis, inborn errors of metabolism or exogenous salicylates ingestion [ 37 ].

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OMIM Entry – # – FANCONI-BICKEL SYNDROME; FBS

Elevated serum biotinidase activity is also found in FBG patients nickel has recently been proposed as a diagnostic marker for this syndrome and other glycogen storage diseases. The low PHK activity was thought to be a secondary phenomenon that contributed to the deposition of glycogen in response to the intracellular glucose retention caused by GLUT2 deficiency.

Expert curators review the literature and organize it to facilitate your work. Inherited renal tubular acidosis. You can help Wikipedia by expanding it.

They represent chronic diseases with significant impact on the quality of life of the affected patients when left untreated, possibly leading to growth failure, osteoporosis, rickets, nephrolithiasis and eventually renal insufficiency[ 1 – 6 ]. Liver biopsy showed accumulation of glycogen in the hepatocytes.

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Fanconi-Bickel syndrome as an example of marked allelic heterogeneity

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 We are determined to keep this website freely accessible. A thrto-ile substitution was present at equal frequency in diabetic and control populations, whereas a valto-ile substitution was discovered in a single allele of a patient with non-insulin dependent diabetes[ 57 ].

Later, Santer et al[ 22 ] reported a total of cases from 88 families worldwide who had been diagnosed as FBS. The GLUT5 hexose transporter tanconi also localized to the basolateral membrane of the human jejunum. Moreover, a new different mutation was described in a 3 year old Indian boy.

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 bickdl at codon 74 in the same exon, resulting in a truncated protein of 45 regular and 28 aberrant amino acids. Retrieved from ” https: The affected proline residue is completely conserved in all mammalian glucose permease isoforms and even in bacterial sugar transporters and is believed to be critical for the passage of glucose through the permease.

Upon renal biopsy, Manz et al. The brush border was normal.