[The Fanconi-Bickel syndrome].

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.

• Authors: L Velásquez, V H Portillo, R Sanjinés, J D Gamboa, C Feria-Kaiser, P Valencia
• Journal: Boletin medico del Hospital Infantil de Mexico (Bol Med Hosp Infant Mex) Vol. 48 Issue 4 Pg. 255-60 (Apr 1991) ISSN: 0539-6115 [Print] Mexico
• Vernacular Title: Síndrome de Fanconi-Bickel.
• PMID: 1867746 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Biopsy, Needle
• Fanconi Syndrome (diagnosis, metabolism, pathology)
• Glycogen Storage Disease (diagnosis, metabolism, pathology)
• Humans
• Infant
• Kidney Tubules, Proximal (metabolism)
• Liver (metabolism, pathology)
• Male
• Terminology as Topic