Glycogen storage disease type XI

Glycogen storage disease type XI
Classification and external resources
OMIM	227810
DiseasesDB	31709

Glycogen storage disease type XI is a form of glycogen storage disease.

It is also known as "Fanconi–Bickel syndrome", for Guido Fanconi and Horst Bickel,^[1]^[2] who first described it in 1949.

It is associated with GLUT2,^[3]^[4] a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons,and enterocytes of the intestines, and enter the blood. The syndrome results in hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature.^[5]

References

↑ synd/65 at Who Named It?
↑ FANCONI G, BICKEL H (November 1949). "Not Available". Helv Paediatr Acta 4 (5): 359–96. PMID 15397919.
↑ Santer R, Steinmann B, Schaub J (March 2002). "Fanconi–Bickel syndrome--a congenital defect of facilitative glucose transport". Curr. Mol. Med. 2 (2): 213–27. doi:10.2174/1566524024605743. PMID 11949937.
↑ Santer R, Groth S, Kinner M, et al. (January 2002). "The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi–Bickel syndrome". Hum. Genet. 110 (1): 21–9. doi:10.1007/s00439-001-0638-6. PMID 11810292.
↑ Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B (October 1998). "Fanconi–Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature". Eur. J. Pediatr. 157 (10): 783–97. doi:10.1007/s004310050937. PMID 9809815.

Genetic disorder, membrane: Solute carrier disorders

1-10	SLC1A3 Episodic ataxia 6 SLC2A1 De Vivo disease SLC2A5 Fructose malabsorption SLC2A10 Arterial tortuosity syndrome SLC3A1 Cystinuria SLC4A1 Hereditary spherocytosis 4/Hereditary elliptocytosis 4 SLC4A11 Congenital endothelial dystrophy type 2 Fuchs' dystrophy 4 SLC5A1 Glucose-galactose malabsorption SLC5A2 Renal glycosuria SLC5A5 Thyroid dyshormonogenesis type 1 SLC6A19 Hartnup disease SLC7A7 Lysinuric protein intolerance SLC7A9 Cystinuria

11-20	SLC11A1 Crohn's disease SLC12A3 Gitelman syndrome SLC16A1 HHF7 SLC16A2 Allan–Herndon–Dudley syndrome SLC17A5 Salla disease SLC17A8 DFNA25

21-40	SLC26A2 Multiple epiphyseal dysplasia 4 Achondrogenesis type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia SLC26A4 Pendred syndrome SLC35C1 CDOG 2C SLC39A4 Acrodermatitis enteropathica SLC40A1 African iron overload

see also solute carrier family

External links

Asociación Española de Enfermos de Glucogenosis

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