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]

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]