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.
|Published (Last):||13 December 2004|
|PDF File Size:||9.38 Mb|
|ePub File Size:||18.7 Mb|
|Price:||Free* [*Free Regsitration Required]|
In view of rickets hepatomegaly, failure to thrive, doll like face and developmental delay, a possibility of Fanconi-Bickel disease was made and patient was extensively evaluated for the above disorder.
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. 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.
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. Fractures and pancreatitis were complications. This original patient carried a homozygous argto-ter RX mutation The use of corn starch in his diet was also recommended. A practical approach to genetic hypokalemia. Various enzymes and metabolites indicated regular function of glycolysis, hexose-monophosphate shunt, and Krebs cycle in the liver.
Genetic disordermembrane: Nelson text book of pediatrics.
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity
Clinical course, response to treatment, and prognosis. Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch.
OMIM Entry – # – FANCONI-BICKEL SYNDROME; FBS
sjndrome After oral and intravenous galactose loads there were severe and long-lasting hypergalactosemias. Fanconi-Bickel glycogenosis FBG is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. Glu85fs and the second is mutation in exon6 in splicing acceptor site with intron5 c. Recently, two new mutations were detected in two unrelated Egyptian families that presented with cases of FBS[ 33 ].
The principle differential diagnosis is type I glycogen storage disease, which is caused by glucosephosphatase deficiency see this term. As in classic galactosemia, Fanconi syndrome was present. Patient was found to have proximal RTA and hepatomegaly with liver biopsy confirming hepatic glycogen deposition. Guidelines Upcoming Special Issues.
Ann Jose ankara escort. Sakamoto et al[ 20 ] studied 3 Japanese patients with Syhdrome and found 4 novel mutations in the GLUT2 gene, including a splice site mutation, a nonsense mutation and 2 missense mutations. N Engl J Med.
Int J Biochem Cell Biol. Fanconi syndrome, the most common prototype of proximal RTA[ 48 ], is part of a systemic disease, mostly autosomal recessive. The overall prognosis seems to be favorable; several patients have been reported to have reached adulthood in a stable condition[ 21 ] and the first reports on fertility of female and male patients have recently been published[ 223132 ].
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 ]. The syndrome results in hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature.
As determined radiologically by Manz et al.
Glycogen storage disease type XI – Wikipedia
Fanconi and Bickel observed hypoglycemia and ketonuria in the fasting state and hyperglycemia in the postabsorptive syndroje. Two novel mutations have been discovered in two unrelated Egyptian families. The last known mutation had been previously localized in exon 9; however, we re-enumerated it to exon 10 due to the fact that between exonstwo exons exon 4-a and exon 4-b had been discovered[ 68 ].
Autosomal recessive inheritance is supported by consanguinity in families, the occurrence in sibs, and the proximity of bickek of residence of patients with FBS Manz et al. Polyuria, probably due to osmotic diuresis, was a constant finding. This article about an endocrine, nutritional or metabolic disease is a stub.
Shayakul C, Alper SL. Blood and urine compounds were characteristic of FBS Steinmann, The affected proline residue is syndome 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. On the other hand, the highly conserved bickfl amino acid change abolished transport activity of the GLUT2 transporter expressed in Xenopus oocytes.
Al-Haggar M solely contributed to this paper.
Intestinal malabsorption was indicated by the general appearance sparse subcutaneous fat, thin limbs, and distended abdomen and the results of vitamin A and ayndrome absorption tests. By two years of age enlarged kidneys are noticeable clinically. Brenner and Rector’s The Kidney. Fanconi’s syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.
Fanconi Bickel Syndrome: A Rare Entity
Impairment of galactose metabolism was demonstrated by oral galactose load and by galactosemia when milk was given. Rest of the examination was normal. Sjndrome proteome pattern in children with renal Fanconi syndrome.