Symptoma

Glycogen Storage Disease due to GLUT2 Deficiency

Fanconi-Bickel Syndrome

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]

  • 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]

  • 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]

  • 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]

  • 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]

  • 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]

  • 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]

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 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]

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]

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]

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]

[…] 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]

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]

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]