[The Fanconi-Bickel syndrome].
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.
Velásquez
L
L
Depto. de Medicinas, Hospital Infantil de México Federico Gómez, D.F.
Portillo
V H
VH
Sanjinés
R
R
Gamboa
J D
JD
Feria-Kaiser
C
C
Valencia
P
P
D001707:Biopsy, Needle; D005198:Fanconi Syndrome / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D006008:Glycogen Storage Disease / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D007687:Kidney Tubules, Proximal / Q000378:metabolism; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male; D009626:Terminology as Topic
Síndrome de Fanconi-Bickel.