Abstract:
Galactosaemia is a rare autosomal recessive metabolic disorder with the prevalence of 1;60000. Classical Galactosaemia (CG) is the most common variant of Galactosaemia and which is due to deficiency of Galactose-1-phosphate Uridyltransferace enzyme. Fanconi Syndrome (FS) is a rare presentation of CG. Here we present a baby girl with CG presenting with FS, which led to a diagnostic difficulty.
