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Fanconi-Bickel Syndrome

XI Glucose transporter, GLUT2 Fanconi-Bickel syndrome Similar to Von Gierke s disease, e.g. hypoglycaemia... [Pg.111]

Santei, R, Schneppenheim, k., T.X->rnbr[>wskl, A., Gofje, H., Sieinmann, B, and Schaub, J. (1997), Mutations inCHJT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat ore Gettet. 17, 324-326. [Pg.130]

A non-anion gap acidosis (hyperchloremic acidosis anion gap <16 mEq/L) is characterized by an acidosis where the anion gap is unchanged from the patient s baseline. This occurs as the decrease in serum bicarbonate is equaled by the rise in serum chloride [3]. Bicarbonate is typically lost from the gastrointestinal tract (i.e., diarrhea) or through the kidneys (i.e., renal tubular acidosis) [4]. Although a few metabolic disorders result in a non-anion gap acidosis (i.e., Fanconi-Bickel syndrome, OMIM 227810), a non-anion gap acidosis is typically not the result of an inborn error of metabolism. [Pg.76]

Barth syndrome Fanconi-Bickel syndrome Molybdenum cofactor def. [Pg.12]

Table 15.17. Hepatorenal GSD with Fanconi-Bickel syndrome ... Table 15.17. Hepatorenal GSD with Fanconi-Bickel syndrome ...
Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B (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 Ped 157 783-797. [Pg.355]

Fanconi-Bickel Syndrome (Synonyms GLUT2 Defect, Glycogenosis with Fanconi Syndrome, Glycogenosis Type XI )... [Pg.359]

Fanconi-Bickel syndrome Liver, kidney, pancreatic 3q26 227810... [Pg.359]

Table 16.4, Fanconi-Bickel syndrome (GLUT defect) (approx. 120 cases reported) ... Table 16.4, Fanconi-Bickel syndrome (GLUT defect) (approx. 120 cases reported) ...
To test for glucose intolerance (decreased hepatic uptake, decreased -cell insulin secretion ( ) in Fanconi-Bickel syndrome. [Pg.363]


See other pages where Fanconi-Bickel Syndrome is mentioned: [Pg.493]    [Pg.493]    [Pg.548]    [Pg.1492]    [Pg.440]    [Pg.493]    [Pg.493]    [Pg.548]    [Pg.358]    [Pg.359]    [Pg.364]    [Pg.364]    [Pg.365]    [Pg.366]    [Pg.366]    [Pg.367]    [Pg.680]    [Pg.369]   
See also in sourсe #XX -- [ Pg.419 ]




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Fanconi syndrome

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