Newly Diagnosed Diabetes in a 2-Year-Old Girl with Homozygous SLC25A42 Mutation: A Rare Mitochondrial Presentation with Persistent Acidosis

Abstract

Background: Often resulting in multisystem involvement, mitochondrial diseases are a varied group of conditions brought on by impaired mitochondrial metabolism. Though rare as new-onset diabetes in early childhood, diabetes mellitus can be a symptom of mitochondrial illnesses. Managing diabetic ketoacidosis (DKA) and ongoing metabolic acidosis could point to an underlying mitochondrial disease, hence needing a different line of therapy. Case Presentation: A 2-year-old female, born full term with no prior hospitalizations, arrived exhibiting polyuria, polydipsia, and hyperactivity for two weeks. Laboratory assessment revealed hyperglycemia (25 mmol/L), metabolic acidosis (pH 7.13, bicarbonate 8 mmol/L), and a high anion gap consistent with moderate DKA. Despite the patient being subjected to the right course of insulin infusion and fluid replacement, her bicarbonate level was still low with lactic levels above five millimoles per litre. A homozygous mutation in the mitochondrial SLC25A42 gene was detected by genetic analysis and was associated with a metabolic crisis. This was followed by rescue treatment with sodium bicarbonate, which reduced the acidosis and helped the patient to shift to subcutaneous insulin administration. A multidisciplinary follow-up schedule was established and the patient and her family were fully educated on diabetes management. To sum up, the case highlights the importance of the necessity to pay attention to mitochondrial metabolic disorders in children with abnormal or intractable acidosis during the treatment of diabetic ketoacidosis. Early detection and customized treatment measures, such as genetic diagnosis and careful correction of metabolic derangements, are vital in the maximization of the outcomes in such rare conditions of diabetes mellitus.