title: [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.affiliation: Depto. de Medicinas, Hospital Infantil de México Federico Gómez, D.F.
authors.forename: L
authors.initials: L
authors.lastname: Velásquez
authors.forename: V H
authors.initials: VH
authors.lastname: Portillo
authors.forename: R
authors.initials: R
authors.lastname: Sanjinés
authors.forename: J D
authors.initials: JD
authors.lastname: Gamboa
authors.forename: C
authors.initials: C
authors.lastname: Feria-Kaiser
authors.forename: P
authors.initials: P
authors.lastname: Valencia
mesh_terms: 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
vernacular_title: Síndrome de Fanconi-Bickel.