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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Various enzymes and metabolites indicated regular function of glycolysis, hexose-monophosphate shunt, and Krebs cycle in the liver. As determined radiologically by Manz et al. Clinical description Onset occurs during the first few months of life with failure to thrive, polyuria and rickets related to proximal tubular losses.
Child is under follow-up from 3 months, his serum phosphorous and alkaline phosphatase improved however patient still is lagging in development with no improvement in growth failure. The metabolic syndrome and chronic kidney disease in a Southeast Asian cohort.
The principle differential diagnosis is type I glycogen storage disease, which is caused by glucosephosphatase deficiency see sydrome term.
The documents contained in this web site are presented for information purposes only. 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.
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. Santer et al[ 22 ] stated that the patient reported by Tanizawa et al[ 57 ] was a woman of African American descent with gestational diabetes mellitus and that the mutation was heterozygous.
Prognosis The long-term prognosis is unknown. Die chronische Aminoacidurie Aminosaeurediabetes oder nephrotisch-glukosurischer Zwergwuchs bei der Glykogenose und der Cystinkrankheit.
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.
Management and treatment Treatment of FBG is symptomatic revolving around compensation of the renal syndrome with replacement of water and electrolytes.
Additional laboratory findings include fasting fanconj, ketonuria and hypercholesterolemia. As in classic galactosemia, Fanconi syndrome was present. Abstract Renal tubular acidosis RTA encompasses many renal tubular disorders characterized by hyperchloremic metabolic acidosis with a normal anion gap.
Glycogen storage disease type XI – Wikipedia
Summary and related texts. September 12, ; Accepted date: Int J Biochem Cell Biol. Rickets and osteoporosis later in life were constant features. Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose Manz et al. Renal tubular acidosis RTA defines many synxrome tubular disorders characterized by hyperchloremic metabolic acidosis with syndroem normal anion gap.
From Wikipedia, the free encyclopedia. For all other comments, please send your remarks via contact us. Molecular analysis on three Japanese patients found four novel mutations: The clinical picture is characterized by glycogen accumulation in liver and kidney resulting in hepatomegaly and nephromegaly, impaired syndroke of glucose and galactose, proximal renal tubular acidosis, hypophosphatemia rickets, and short stature. Five allelic variants were described by Santer et al[ 22 ], mostly missense mutations: Sequence, sundrome distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein.
After insulin administered subcutaneously or released by intravenous tolbutamide, glucose dropped to very low levels and blood lactate rose; Odievre concluded that lactic acid was produced by glycolysis of glucose that had been taken up by peripheral tissues rather than by the liver.
Orphanet: Glycogen storage disease due to GLUT2 deficiency
The overall prognosis seems to be favorable; several patients have been reported to have reached adulthood in a stable condition[ 21 ] and the fancooni reports on fertility of female and male patients have recently been published[ 223132 ].
Growth retardation and hepatosplenomegaly resulting in a protruding abdomen are evident by early childhood.
Cutting of the teeth and puberty were retarded. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by bidkel students in science and medicine.
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity
Laboratory findings of Manz et al. Glomerular filtration rate was normal or low normal, and there was no progression to glomerular insufficiency nor deterioration of tubular defects. The liver size and glycogen content were reduced after the institution of an antiketogenic diet. July 26, ; Published date: Inborn errors of carbohydrate metabolism Hepatology Muscular disorders Endocrine, nutritional and metabolic disease stubs.