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Glycogen Storage Disease due to GLUT2 Deficiency

Fanconi-Bickel Syndrome


Presentation

  • However, in th... more We Present the first mutation proven case of Fanconi–Bickel syndrome, a rare type of glycogen storage disease, from India. A four-year-old girl presented with severe growth retardation, genu varum and hepatomegaly.[scinapse.io]
  • It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice.[whonamedit.com]
  • […] rk T...Sivri S 2017 5 Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. ( 27617158 ) Afroze B....Chen M. 2016 6 Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation[malacards.org]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Fanconi–Bickel syndrome presenting in neonatal screening for galactosaemia. J Inher Metab Dis 1997; 20:607–608[journalofpediatriccriticalcare.com]
Splenomegaly
  • Clinical features : Hepatomegaly, failure to thrive, cirrhosis, splenomegaly, jaundice, hypotonia, waddling gait, lumbar lordosis.[patient.info]
  • Deficiency Cardinal Clinical Features Distinctive Features Type 0 Glycogen synthase Fasting hypoglycemia and ketosis No hepatomegaly; postprandial hyperglycemia and hyperlactatemia Type IA Glucose-6-phosphatase Severe hypoglycemia; hepatomegaly; No splenomegaly[clinicaladvisor.com]
Turkish
  • Fanconi–Bickel syndrome in three Turkish patients with different homozygous mutations. Turk J Pediatr. 2005;47:167–9. Google Scholar 8. Ozer EA, Aksu N, Uclar E, Erdogan H, Bakiler AR, Tsuda M, et al.[doi.org]
  • […] an affected patient. ( 21271664 ) Pena L....Charrow J. 2011 32 Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. ( 21625891 ) Gopalakrishnan A....Srinivasan S. 2011 33 A novel mutation of the GLUT2 gene in a Turkish[malacards.org]
  • We report here an 8-month-old Turkish girl who developed characteristic findings of FBS. However, no mutation was detected in the protein-coding region of the SLC2A2 gene.[scinapse.io]
  • CLN7 S CLN Turkish variant 10.5.9. CLN8, Northern epilepsy type 10.5.10. CLN9 10.5.11. CLN10 S Cathepsin D deficiency 10.6. Lysosomal lipid storage disorders ΛΥΣΟΣΩΜΙΚΕΣ ΔΙΑΤΑΡΑΧΕΣ ΑΠΟΘΗΚΕΥΣΗΣ ΛΙΠΙΔΙΩΝ 10.6.1.[studyres.com]
Falling
  • Because blood glucose concentrations fall rapidly, this test should only be performed with secure intravenous access and with frequent clinical and biochemical monitoring.[clinicaladvisor.com]
  • Liver glycogen content falls overnight to its daily minimum value before breakfast. Glycogen degradation in the cytosol of hepatocytes is accomplished by two enzymes.[bioscirep.org]
Failure to Thrive
  • Mutations were also found in patients with atypical clinical signs such as intestinal malabsorption, failure to thrive, the absence of hepatomegaly, or renal hyperfiltration.[ncbi.nlm.nih.gov]
  • […] consanguineous marriage was brought to us with complains of failure to thrive, abdominal distention, polyuria and polydypsia since 6 month of age.[journalofpediatriccriticalcare.com]
  • Clinical description Onset occurs during the first few months of life with failure to thrive, polyuria and rickets related to proximal tubular losses.[orpha.net]
  • 2 (GLUT2 or SLC2A2) gene which codes for the glucose transporter protein 2 expressed in hepatocytes and renal tubular cells causing a defect in carbohydrate metabolism, hepatomegaly, severe hypophosphatemic rickets and failure to thrive.[scinapse.io]
Failure to Thrive
  • Mutations were also found in patients with atypical clinical signs such as intestinal malabsorption, failure to thrive, the absence of hepatomegaly, or renal hyperfiltration.[ncbi.nlm.nih.gov]
  • […] consanguineous marriage was brought to us with complains of failure to thrive, abdominal distention, polyuria and polydypsia since 6 month of age.[journalofpediatriccriticalcare.com]
  • Clinical description Onset occurs during the first few months of life with failure to thrive, polyuria and rickets related to proximal tubular losses.[orpha.net]
  • 2 (GLUT2 or SLC2A2) gene which codes for the glucose transporter protein 2 expressed in hepatocytes and renal tubular cells causing a defect in carbohydrate metabolism, hepatomegaly, severe hypophosphatemic rickets and failure to thrive.[scinapse.io]
Vomiting
  • The first symptoms were fever, vomiting, growth failure and rickets at the age of 3-10 months. Later, the patients presented with dwarfism, protuberant abdomen, hepatomegaly, moon-shaped face and fat deposition about the shoulder and abdomen.[slideheaven.com]
  • During illness, uncooked cornstarch is given every 6 hours, but intravenous glucose (10% glucose administered at 1.25 times the maintenance rate of fluid administration) may be required with vomiting or a gastrointestinal illness and inability to tolerate[clinicaladvisor.com]
  • […] glycolysis Rate limiting step in glycolysis Clinical features: Some features similar to McArdle's Onset: 2nd to 4th decade Exercise intolerance Muscle cramps & Myoglobinuria after vigorous exercise Cramps relieved by rest Pain may be associated with nausea & vomiting[neuromuscular.wustl.edu]
Constipation
  • At 15 months the patient presented with severe dystrophy (5.5 kg), psychomotor retardation, hepatomegaly, constipation, polyuria and rickets. She had two 510 spontaneous fractures. Adult height is 131.5 cm. She is working as a secretary.[slideheaven.com]
Hepatosplenomegaly
  • Growth retardation and hepatosplenomegaly resulting in a protruding abdomen are evident by early childhood. Puberty is delayed. Generalized osteopenia leading to fractures during childhood, with osteoporosis later in life, has also been reported.[orpha.net]
  • Hepatosplenomegaly Fatal -- inflammation and scarring to liver, eventual cirrhosis and death. Glycogen Storage Disease Type 5 Skeletal Muscle Glycogen Phosphorylase Defect(McArdel's Disease) Usually seen in adulthood (no symptoms til age 20) .[studyblue.com]
  • This form of glycogen storage disease typically presents in the first year of life, with hepatosplenomegaly and failure to thrive. Hypoglycemia is rarely seen.[ommbid.mhmedical.com]
  • […] increased, but deposits have short outer branches type IV glycogen storage disease branching enzyme defect: Andersen's disease normal amount of glycogen w/ long outer branches - insoluble glycogen that your body thinks is a foreign body and attacks hepatosplenomegaly[quizlet.com]
Osteoporosis
  • Generalized osteopenia leading to fractures during childhood, with osteoporosis later in life, has also been reported. Some patients also display an abnormal fat distribution.[orpha.net]
  • Untreated patients usually complain of growth failure, osteoporosis, rickets, nephrolithiasis and eventually renal insufficiency.[scinapse.io]
  • Long-term complications include gout, hepatic adenomas, osteoporosis, renal disease, and short stature. Major progress has been made in managing this disorder.[ommbid.mhmedical.com]
Fracture
  • Generalized osteopenia leading to fractures during childhood, with osteoporosis later in life, has also been reported. Some patients also display an abnormal fat distribution.[orpha.net]
  • Fractures and pancreatitis were complications.[slideheaven.com]
Neonate-Onset
  • onset. ( 15116130 ) Riva S....Somaschini M. 2004 41 A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. ( 15243984 ) Peduto A....Santer R. 2004 42 No mutation in the SLC2A2 ([malacards.org]
Polyuria
  • Clinical description Onset occurs during the first few months of life with failure to thrive, polyuria and rickets related to proximal tubular losses.[orpha.net]
  • […] generalized aminoaciduria, bicarbonate wasting and hypophosphatemia.5,6,7,8,9 Case Report: A 18 month old female child (Fig.1), second born of a non consanguineous marriage was brought to us with complains of failure to thrive, abdominal distention, polyuria[journalofpediatriccriticalcare.com]
  • Mild or moderate polyuria was observed in all patients. In the absence of hypercalcaemia and nephrocalcinosis, renal concentrating capacity seemed to be normal; polyuria is therefore mainly the result of an increased osmotic load.[slideheaven.com]
Renomegaly
  • We report a 3-year-old boy from southern India who presented with doll-like facies, florid rickets, massive hepatomegaly, growth retardation, renomegaly and laboratory evidence of proximal renal tubular dysfunction.[scinapse.io]

Workup

Alkaline Phosphatase Increased
  • phosphatase Increased alkaline phosphatase Increased serum alkaline phosphatase Last updated: 2/27/2017 Fanconi Bickel syndrome is inherited in an autosomal recessive manner. [2] This means that a person affected with Fanconi Bickel syndrome has changed[rarediseases.info.nih.gov]
Insulin Decreased
  • Intravenous injection of insulin decreased the blood glucose levels from 70 to 40 mg/dl within 30 min in case 4 and from 77 to 23 mg/dl within 60 min in case 7.[slideheaven.com]
Amino Acids Increased
  • All patients showed symptoms of catabolism, such as hypoglycaemia, ketonuria, ketonaemia, decreased serum levels of the glucoblastic amino acids, increased serum levels of the branched chain amino acids, triglycerides, free fatty acids, phospholipoids[slideheaven.com]

Treatment

  • Management and treatment Treatment of FBG is symptomatic revolving around compensation of the renal syndrome with replacement of water and electrolytes. Vitamin D and phosphate supplements are essential for preventing hypophosphatemic rickets.[orpha.net]
  • Symptomatic treatment is directed towards a stabilization of glucose homeostasis and compensation for renal losses of various solutes.[doi.org]
  • However, with the proper treatment, some of the symptoms of Fanconi Bickel syndrome can resolve with age.[rarediseases.info.nih.gov]

Prognosis

  • Prognosis The long-term prognosis is unknown. The renal tubular dysfunction persists into adulthood but in most cases does not appear to progress to renal failure.[orpha.net]
  • Conclusion: Long term prognosis of Fanconi-Bickel syndrome is unknown, the renal tubular dysfunction persists into adulthood but in most cases does not appear to progress to renal failure.[journalofpediatriccriticalcare.com]
  • Prognosis : mostly death by age 4, due to cirrhosis and portal hypertension. Type V: McArdle's disease See the separate article on McArdle's Glycogen Storage Disease.[patient.info]
  • Prognosis : mostly death by age 4, due to cirrhosis and portal hypertension. Type V: McArdle's disease See the separate article on McArdle's Glycogen Storage Disease .[gopatients.info]

Etiology

  • Etiology FBG is caused by homozygous or compound heterozygous mutations in the SLC2A2 gene (3q26.2-q27).[orpha.net]
  • Etiology The etiology of GSD is best understood by following the metabolic events leading to the synthesis (glycogenesis) and degradation of glycogen (glycogenolysis).[knowledge.statpearls.com]
  • Ongoing controversies regarding etiology, diagnosis, treatment In 2002, guidelines from the European Study on Glycogen Storage Disease Type I (ESGSDI) recommended liver transplantation in patients with type I GSD and unresectable hepatocellular adenomas[clinicaladvisor.com]

Epidemiology

  • Summary Epidemiology The prevalence is unknown but less than 200 cases have been described in the literature so far.[orpha.net]
  • GLUT2 deficiency - Glycogenosis due to GLUT2 deficiency Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare renal disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological[csbg.cnb.csic.es]
  • […] disease for SLC2A2 Gene glycogen storage disease,hepatorenal with tubular nephropathy and impaired utilization of glucose and galactose,Fanconi-Bickel syndrome Relevant External Links for SLC2A2 Genetic Association Database (GAD) SLC2A2 Human Genome Epidemiology[genecards.org]
  • Lamp-2 : Xq24 Phosphorylase (McArdle's), severe phenotype: 11q13 Triosephosphate isomerase : 12p13 Acid Maltase Deficiency (Glycogen storage disease 2 (GSD2); Pompe disease) Acid α-1,4-glucosidase (GAA) ; Chromosome 17q25.3; Recessive Nosology: LGMD 2V Epidemiology[neuromuscular.wustl.edu]
Sex distribution
Age distribution

Pathophysiology

  • Conclusion Although with the first description of a congenital defect of facilitative glucose transport the main steps in the pathophysiology of Fanconi-Bickel syndrome have been elucidated, numerous pathophysiological mechanisms are far from clear and[doi.org]
  • Although with the first description of a congenital defect of facilitative glucose transport the main steps in the pathophysiology of Fanconi-Bickel syndrome have been elucidated, numerous pathophysiological mechanisms are far from clear and thus encourage[ncbi.nlm.nih.gov]
  • In addition to the clinical and molecular genetic aspects of FBS, this review discusses the pathophysiology of the disease and compares it to recent findings in GLUT2 deficient transgenic animals.[eurekaselect.com]

Prevention

  • Vitamin D and phosphate supplements are essential for preventing hypophosphatemic rickets. Patients should follow a galactose-restricted diabetic diet with fructose as the main source of carbohydrate. Prognosis The long-term prognosis is unknown.[orpha.net]
  • Because people with Fanconi Bickel syndrome have trouble moving glucose throughout the body, limiting galactose prevents the buildup of glucose and glycogen in the liver and kidneys.[rarediseases.info.nih.gov]
  • Uncooked (raw) cornstarch (1-1.5 grams per kg) administered at bedtime prevents morning hypoglycemia and ketosis. Daytime hypoglycemia tends to be mild and snacks every 2 to 4 hours prevent hypoglycemia.[clinicaladvisor.com]

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