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[The Fanconi-Bickel syndrome]
L Velásquez1, V H Portillo, R Sanjinés
1Depto. de Medicinas, Hospital Infantil de México Federico Gómez, D.F.
Insights
Fanconi-Bickel syndrome involves kidney issues like glycosuria and liver glycogen buildup. This rare genetic disorder stems from a defect in glucose and galactose transporters, not the glucose-6-phosphatase enzyme.
Area of Science:
- Biochemistry
- Pediatric Genetics
- Metabolic Disorders
Background:
- Fanconi-Bickel syndrome is a rare inherited metabolic disorder.
- It presents with Fanconi syndrome manifestations and liver glycogenosis.
Observation:
- A 15-month-old child exhibited glycosuria, amino aciduria, and phosphaturia.
- The patient also showed liver glycogen accumulation, leading to hypoglycemia and dyslipidemia.
Findings:
- Glycogenosis in Fanconi-Bickel syndrome is not due to glucose-6-phosphatase deficiency.
- The condition results from a defect in the glucose and galactose transporter (GLUT family) in the liver and kidney.
Implications:
- This finding clarifies the molecular mechanism of Fanconi-Bickel syndrome.
- Understanding the transporter defect is crucial for diagnosis and potential therapeutic strategies.
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.