Neonate with permanent neonatal diabetes mellitus; a very rare homozygous missense mutation in the glucokinase gene

Abstract

While the early onset of NDM in the first six months of life rarely occurs as a result of autoimmune disorder, genetic mutations and chromosomal abnormalities are recognizable causes of NDM.17 Mutations in KCNJ11 or ABCC8 gene, that encode for subunits of the ATP sensitive potassium channel, are the most commonly encountered mutations in permanent NDM.8 Previous reports showed thet permanent NDM may result from mutations in insulin or glucokinase (GCK) genes as well.9,10 Homozygous GCK-related permanent NDM is associated with complete GCK deficiency and severe hyperglycemia.11,12