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Case Reports
. 1991 Apr;48(4):255-60.

[The Fanconi-Bickel syndrome]

[Article in Spanish]
L Velásquez  1 , V H Portillo, R Sanjinés, J D Gamboa, C Feria-Kaiser, P Valencia
Affiliations
  • PMID: 1867746
Case Reports

[The Fanconi-Bickel syndrome]

[Article in Spanish]
L Velásquez et al. Bol Med Hosp Infant Mex. 1991 Apr.

Abstract

This is a case of a 15-month-old child suffering from Fanconi-Bickel syndrome, characterized with Fanconi syndrome manifestations (glycosuria, amino aciduria and phosphaturia), and the build-up of glycogen in the liver in a similar manner as seen in cases of glycogenesis type Ia. Due to the presence of liver glycogenosis, the patient also has a tendency towards hypoglycemia, ketonuria, hypercholesterolemia and hypertriglyceridemia. The glycogenosis seen in the patients with the Fanconi-Bickel syndrome, does not depend on a defect in the activity of the glucose-6-phosphatase enzyme, but in fact is due to a defect in the transporter which mobilizes glucose and galactose in the liver and in the basolateral membrane of the proximal tubule of the kidney.

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