Fanconi-Bickel Syndrome as A Cause for Proximal Renal Tubular Acidosis and Cataract
Abstract
Fanconi-Bickel syndrome is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilization of glucose and galactose. We report a case of Fanconi-Bickel syndrome (FBS) in an 8-month-old boy from Nepal who presented with dehydration fever, developmental delay, cataract, growth retardation and laboratory evidence of proximal renal tubular dysfunction.
Fields of Study & Subjects
Glycogen Storage Diseases and Myoclonus
Metabolism and Genetic Disorders
Biomedical Research and Pathophysiology
Publication details
- Journal / source
- International Clinical and Medical Case Reports
- Volume
- 5
- Issue
- 1
- Pages
- 1–3
- Publication date
- 5 January 2026