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.
Keywords
Fanconi–Bickel syndrome - hypophosphatemic rickets - Pakistani patient