Background: Hyperglycemic ketoacidosis is an acute, life threatening condition requiring early etiologic recognition and management to prevent serious morbidity/mortality. The most common cause is diabetic ketoacidosis (DKA). Organic acidaemias (OAs) are inheritable metabolic disorders caused by defects in protein metabolism resulting in acid accumulation. Patients with metabolic decompensation usually present with lactic and/or ketoacidosis, with/without hypoglycemia. Hyperglycemia is a very rare manifestation. At least 16 cases of OAs presenting with hyperglycemia have been reported. Six/16 died from late diagnosis or poor compliance.
Objective and hypotheses: We described a 2-year-old Thai girl presented with hyperglycemia, high gap acidosis and ketosis; pH 7.0, anion gap 26, glucose 283 mg/dl, and ketonemia. She has underlying delayed development, seizures, optic atrophy and poor growth. An initial diagnosis with DKA was made and standard treatment with fluids and insulin was started. After 4 h of treatment, blood sugar decreased but high gap acidosis and ketonemia persisted. Other causes of impaired response to insulin e.g. infection, errors in insulin preparation were not identified. HbA1c was 4.8%.
Method: Due to persistent acidosis, investigations to rule out OAs were performed.
Results: Markedly elevated urinary methylmalonic acid consistent with MMA was demonstrated. Molecular and enzyme analyses confirmed the diagnosis with MMA. Insulin was discontinued, specific treatment for MMA including protein restriction, high caloric fluid, carnitine and vitamin B12 was promptly started. Acidosis was normalized in 4 days. Patient was discharged a few days later.
Conclusion: Majority of patients with DKA shows excellent response with standard therapy; therefore other etiologies of acidosis/hyperglycemia should be investigated in poor responders. OAs should be included in differential diagnosis especially in countries that national newborn screening is not implemented. Unusual findings e.g. hyperammonemia, lactic acidosis, delayed development may indicate underlying OAs. Determining the etiology of hyperglycemic ketoacidosis is importance and can lead to good outcome.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology