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AbstractContext: Neonatal diabetes is a rare endocrinal disorder with an incidence of about 1 in 100,000 live births. It is defined as diabetes diagnosed in the first 6 months of life and is categorized into permanent neonatal diabetes and transient neonatal diabetes. Case report: We present a case of neonatal diabetes due to a mutation in KATP channel which revealed a heterozygous mutation in exon 21 of ABCC8. Conclusion: An infant who presents with nonspecific symptoms that cannot be attributed to other illnesses should have a simple urine test for glucose. The genetic diagnosis has implications on treatment as patients can switch from insulin therapy to oral hypoglycaemic drugs.

Keywords: Insulin-dependent diabetes mellitus, infancy, diabetic ketoacidosis, management, diagnosis.


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