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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J R Soc Med. Moreover, a syndrom different mutation was described in a 3 year old Indian boy. By using this site, you agree to the Terms of Use and Privacy Policy. In a comprehensive review published in honor of Professor Bickel’s 80th birthday, Santer et al. N Engl J Med.

There was no history of seizures, jaundice, pedal edema, cataractand polyuria. These observations should yield the following conclusions: Hyperglycemia and hypergalactosemia in the fed state can be explained by decreased monosaccharide uptake by the liver. Cutting of the teeth and puberty were retarded.

Three allelic variants, all of which are nonsense causing premature termination of protein synthesis[ 21 ]: We need long-term secure funding to provide you the information that you need at your fingertips. A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity.

By two years of age enlarged kidneys are noticeable clinically. 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.

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Orphanet: Glycogen storage disease due to GLUT2 deficiency

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.

Growth retardation shndrome hepatosplenomegaly resulting in a protruding abdomen are evident by early childhood. The use of the urinary anion syndroms in the diagnosis of hyperchloremic metabolic acidosis. Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity: July 26, ; Published date: A thrto-ile substitution was present at equal frequency in diabetic and control populations, whereas a valto-ile substitution was discovered in a single syndrme of a patient with non-insulin dependent diabetes[ 57 ].

Glu85fswhich presents with an early grave course despite adequate treatment, and the second novel mutation exists in exon 6 in the splicing acceptor site with intron5 c.

Glycogen storage disease type XI

Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. After oral and intravenous galactose loads there were severe and long-lasting hypergalactosemias.

Visit for more related articles at Journal of Clinical Case Reports. In such situations, RTA is further suspected if hyperchloremic metabolic acidosis shows delayed resolution[ 3536 ]. Later, Santer et al[ 22 ] reported a total of cases from 88 families worldwide who had been diagnosed as FBS.

Hypoglycemia is exacerbated by renal loss of glucose due to a transport defect for glucose and galactose across the basolateral membranes of the tubular cells. The first symptoms were fever, vomiting, growth failure, and rickets at the age of 3 to 10 months. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. This suggested that Fanconi-Bickel syndrome 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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This is an autosomal recessive disorder discovered in and the pathogenic mutation of GLUT 2 gene of hepatocytes, beta cells of pancreas and renal tubules were discovered in Intestinal malabsorption was indicated by the general appearance sparse subcutaneous fat, thin limbs, and distended abdomen and the results of vitamin A and xylose absorption tests.

This original patient carried a homozygous argto-ter RX mutation Fanconi-Bickel syndrome–a congenital defect of facilitative glucose transport. Patients usually presents early in life with rickets and hepatomegaly.

OMIM Entry – # – FANCONI-BICKEL SYNDROME; FBS

Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome. Unfortunately, it is not free to produce. Five allelic variants were described by Santer et al[ 22 ], mostly missense mutations: Fanconi-Bickel syndrome–the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.

Japan and North America.