Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets
Document Type
Article
Department
Paediatrics and Child Health
Abstract
Fanconi-Bickel syndrome is a rare inherited disorder characterized by hepatorenal glycogen accumulation, renal tubular dysfunction, growth failure, and impaired utilization of glucose and galactose. We report the first two children with Fanconi-Bickel syndrome from Pakistan who presented with classical features of Fanconi-Bickel Syndrome. Both patients were found to be homozygous for a single nucleotide deletion in the SLC2A2 gene defined as c.339delC. This mutation was previously described in an Arab patient who was initially presented as permanent neonatal diabetes mellitus before developing classical features of Fanconi-Bickel syndrome.
Publication (Name of Journal)
Journal of Pediatric Genetics
Recommended Citation
Afroze, B.,
Chen, M.
(2016). Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. Journal of Pediatric Genetics, 5(3), 161-166.
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/483