"Fanconi–Bickel syndrome"

Advice - reimburse empagliflozin (Jardiance) for treating Von Gierke disease and Fanconi-Bickel syndrome Advice - reimburse empagliflozin (Jardiance®) for treating Von Gierke disease and Fanconi-Bickel syndrome | Report | National Health Care Institute Go to content You are here: Home Publications Advice - reimburse empagliflozin (Jardiance®) for treating Von Gierke disease and Fanconi-Bickel with Von Gierke disease or Fanconi-Bickel syndrome. The medicinal product can also be used in certain patients with diabetes, cardiac failure and chronic kidney damage. If the minister adopts our advice, empagliflozin will also be included in the Medicine Reimbursement System (GVS) for Von Gierke disease and Fanconi-Bickel syndrome. Only then will this medicinal product be reimbursed from the health care

Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome. Fanconi-Bickel syndrome is characterized by hepatorenal disease caused by anomalous glycogen storage. It occurs due to variants in the SLC2A2 gene. We present a male patient of 2 years 7 months old, with failure to thrive, hepatomegaly, metabolic acidosis, hypophosphatemia , hypokalemia, hyperlactatemia. Exome sequencing identified the homozygous pathogenic variant NM_000340.2(SLC2A2):c.1093 C > T (p.Arg365Ter), related with Fanconi-Bickel syndrome. He received treatment with bicarbonate, amlodipine, sodium citrate and citric acid solution, enalapril, alendronate and zolendronate, and nutritional management with uncooked cornstarch, resulting in an improvement of one standard

Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients With Fanconi-Bickel Syndrome. This study aims to investigate the clinical, biochemical, and genetic characteristics of Fanconi-Bickel syndrome (FBS) in a cohort of 20 individuals from Palestine and to identify novel pathogenic variants. A retrospective analysis was conducted on medical records from Al

Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare autosomal recessive disease caused by a deficiency of glucose transporter 2 (GLUT2), a member of the facilitative glucose transporter family (Santer et al. J Inherit Metab Dis 21:191-194, 1998). The typical clinical picture

Phenotypic and Genotypic Variability in Fanconi Bickel Syndrome: A Systematic Review of Case Reports and Observational Studies PROSPEROInternational prospective register of systematic reviews Print | PDFPhenotypic and Genotypic Variability in Fanconi Bickel Syndrome: A Systematic Review of Case Reports and Observational StudiesHelen Huang, Mainak Bardhan, Adele Mazzoleni, Kusumita Chhabra . Further detail is provided here.CitationHelen Huang, Mainak Bardhan, Adele Mazzoleni, Kusumita Chhabra, Narjiss Aji, Goshen David Miteu. Phenotypic and Genotypic Variability in Fanconi Bickel Syndrome: A Systematic Review of Case Reports and Observational Studies. PROSPERO 2023 CRD42023434778 Available from: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42023434778Review questionWe aim

Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights. Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by mutations in the SLC2A2 gene coding for the glucose transporter protein 2 (GLUT2). Major manifestations include hepatomegaly, glucose intolerance, post-prandial hypoglycaemia and renal disease that usually

An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2) gene. It is characterized by hepatorenal glycogen accumulation, tubular nephropathy and impaired utilization of glucose and galactose. In this communication, we present the case of a 5-year-old girl who presented with deforming rickets and massive hepatomegaly. Liver biopsy confirmed the diagnosis of glycogen storage disorder. However, the mutation of the SLC2A2 (GLUT2) gene was not found. Mutation negative patients with characteristic Fanconi-Bickel syndrome phenotype suggest additional underlying mechanisms that need exploration.

Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations. Many inherited disorders of calcium and phosphate homeostasis are unexplained at the molecular level. The objective of the study was to identify the molecular basis of phosphate and calcium abnormalities in two unrelated, consanguineous families , respectively) in GLUT2, the gene mutated in Fanconi-Bickel syndrome, a rare disease usually characterized by renal tubulopathy, impaired glucose homeostasis, and hepatomegaly. Xenopus oocytes expressing the [R124S]GLUT2 mutant showed a significant reduction in glucose transport, but neither wild-type nor mutant GLUT2 facilitated phosphate import or export; tgGlut2-/- mice demonstrated a profound reduction

with hepatomegaly and hypoglycemia, espe-cially GSD type III and Fanconi–Bickel syndrome, a glucose transporter 2 transporter defect classified as GSD XI, which is not involved in the glycogen metabolism pathway (Ta b l e 1), and, possibly, GSD VI and IX. GSD I and III have several fea-tures in common, including hepatomegaly, hypoglycemia, and hyperlipidemia. However, some key differences between glycogen resembling plant-like fibers (amylopectin) accumulates in the liver.Fructose-1,6-bisphosphatase deficiency,69–71 a disorder of glu-coneogenesis, and Fanconi–Bickel syndrome (GSD XI)72–75 both have some features that may be confused with GSD I (Ta b l e 1). Because of severe hepatomegaly, lysosomal storage disorders such as Gaucher disease and Niemann–Pick type B disease may initially

and fasting ketosis. The clinical and biochemical abnormalities gradually disappear by adulthood.[11]Type XI: Fanconi-Bickel syndrome[12]Affected enzyme: glucose transporter 2 (GLUT2).Clinical features: hepatomegaly, glucose and galactose intolerance, fasting hypoglycaemia, proximal tubular nephropathy and severe short stature. Symptoms persist into adulthood.Treatment: there is no specific therapy disease type IX. Mol Genet Metab. 2013 Jun109(2):179-82. doi: 10.1016/j.ymgme.2013.03.009. Epub 2013 Mar 21.Glycogen storage disease IX; Online Mendelian Inheritance in Man (OMIM)Glycogen Storage Disease XI, Fanconi-Bickel syndrome; Online Mendelian Inheritance in Man (OMIMGlycogen Storage Disease 0, Liver; Online Mendelian Inheritance in Man (OMIM)Glycogen Storage Disease 0, Muscle; Online Mendelian

Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects Fanconi-Bickel syndrome, caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2), is characterized by generalized proximal renal tubular dysfunction manifesting in late infancy. We describe phenotypic heterogeneity of Fanconi-Bickel syndrome in three siblings, including early . Patients with SLC2A2 mutations may present either with isolated neonatal diabetes or with hepatomegaly and the renal Fanconi syndrome. Fanconi-Bickel syndrome shows phenotypic heterogeneity and may manifest early with subtle or atypical features, mandating a high index of suspicion.

Fanconi–Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets Fanconi-Bickel syndrome is a rare inherited disorder characterized by hepatorenal glycogen accumulation, renal tubular dysfunction, growth failure, and impaired utilization of glucose and galactose. We report the first two children with Fanconi-Bickel syndrome from Pakistan who presented with classical features of Fanconi-Bickel Syndrome. Both patients were found to be homozygous for a single nucleotide deletion in the SLC2A2 gene defined as c.339delC. This mutation was previously described in an Arab patient who was initially presented as permanent neonatal diabetes mellitus before developing classical features of Fanconi-Bickel syndrome.

in ,, and , which are associated with congenital indifference to pain (CIP) and Fanconi-Bickel syndrome (FBS). This work provides useful information for clinical and genetic diagnosis of OI patients with no positive family history of this disease. Our data also indicate that CIP and FBS are conditions to be considered in the differential diagnosis of OI and suggest a positive role of and in bone development.

leads to premature termination of translation and activates cryptic splice sites resulting in multiple exon variants also with premature translation termination. The affected calves exhibit stunted growth, resembling the phenotypic appearance of Fanconi-Bickel syndrome in humans (OMIM 227810), which is also caused by mutations in SLC2A2. Exploiting comprehensive genotype and sequence data enabled us

)-expressing neurons of the nucleus tractus solitarius can be activated by hypoglycaemia to stimulate glucagon secretion. In humans, inactivating mutations in GLUT2 cause Fanconi-Bickel syndrome, which is characterised by hepatomegaly and kidney disease; defects in insulin secretion are rare in adult patients, but GLUT2 mutations cause transient neonatal diabetes. Genome-wide association studies have

is controversial, and biallelic SLC2A2 mutations cause Fanconi-Bickel syndrome (FBS), with diabetes rarely reported. We investigated the potential role of GLUT2 in the neonatal period by testing whether SLC2A2 mutations can present with neonatal diabetes before the clinical features of FBS appear. We studied SLC2A2 in patients with transient neonatal diabetes mellitus (TNDM; n = 25) or permanent neonatal

hyperinsulinism at 3 months of age and had complete resolution of hyperinsulinism by 4 yr. She was found to have a novel MODY3 HNF1A missense mutation, also carried by her father. Case 3 presented as a newborn with diazoxide-responsive hyperinsulinism and later developed renal Fanconi syndrome, hypophosphatemic rickets, and hepatic glycogenosis. Although the latter's features suggested Fanconi-Bickel syndrome

; deficiencies of glucose transport protein 2 (Fanconi-Bickel syndrome) mimic the hepatopathy of other GSD types (eg, I, III, IV, VI).Table More Information The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource. * Online Mendelian Inheritance in Man® (OMIM®) database: Complete gene, molecular, and chromosomal location

Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3. Fanconi-Bickel syndrome (FBS) is a rare disorder of glucose transport caused by autosomal recessive mutations in GLUT2. Clinically, FBS results in growth failure, hepatomegaly, renal Fanconi syndrome, and abnormal glucose homeostasis. We report a 23

GLUT1 deficiency and other glucose transporter diseases. We review the three genetically determined disorders of glucose transport across cell membranes. Diseases such as glucose-galactose malabsorption, Fanconi-Bickel syndrome and De Vivo disease (GLUT1 deficiency syndrome (GLUT1DS)) arise from heritable mutations in transporter-encoding genes that impair monosaccharide uptake, which becomes