Journal of Inherited Metabolic Disease

, Volume 21, Issue 3, pp 191–194 | Cite as

Fanconi–Bickel syndrome – A congenital defect of the liver-type facilitative glucose transporter

  • R. Santer
  • R. Schneppenheim
  • A. Dombrowski
  • H. Götze
  • B. Steinmann
  • J. Schaub
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REFERENCES

  1. Blakemore SJ, Aledo JC, James J, Campbell FC, Lucocq JM, Hundal HS (1995) The GLUT5 hexose transporter is also localized to the basolateral membrane of the human jejunum. Biochem J 309: 7–12.Google Scholar
  2. Burant CF, Saxena M (1994) Rapid reversible substrate regulation of fructose transporter expression in rat small intestine and kidney. Am J Physiol 267: G71–G79.Google Scholar
  3. Fanconi G, Bickel H (1949) Die chronische Aminoacidurie (Aminosa. urediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit. Helv Paediatr Acta 4: 359–396.Google Scholar
  4. Hug G (1987) Defects in metabolism of carbohydrates. In Behrman RE, Vaughan VC, Nelson WE, eds. Nelson Textbook of Pediatrics, 14th edn. Philadelphia: Saunders, 359–372.Google Scholar
  5. Manz F, Bickel H, Brodehl, et al (1987) Fanconi—Bickel syndrome. Pediatr Nephrol 1: 509–518.Google Scholar
  6. Santer R, Schneppenheim R, Dombrowski A, GÖtze H, Steinmann B, Schaub J (1997) Mutations in GL UT 2, the gene for the liver-type glucose transporter, in patients with Fanconi— Bickel syndrome. Nature Genetics 17: 324–326.Google Scholar

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© SSIEM and Kluwer Academic Publishers 1998

Authors and Affiliations

  • R. Santer
  • R. Schneppenheim
  • A. Dombrowski
  • H. Götze
  • B. Steinmann
  • J. Schaub

There are no affiliations available

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