Propionic acidemia is a rare, autosomal recessive, inherited inborn error of propionate metabolism presenting as life threatening ketoacidosis progressing rapidly to coma and death [1]. Very few cases presenting with hyperglycemia have been described [2,3].

We report a 11 month old girl with propionic acidemia appearing as diabetic ketoacidosis. This child was referred to us for further care with diagnosis of diabetic ketoacidosis. Before coming to us she was admitted with fever, breathlessness and altered sensorium. There was history of failure to thrive and frequent vomiting. She was drowsy and had acidotic breathing, weak peripheral pulses and delayed capillary refill. Investigations revealed hemoglobin of 8.7 g/dL, normal WBC and differential count and low platelet count of 57000/cmm. The blood glucose was 466 mg/dL and urine ketones. Blood gas revealed severe metabolic acidosis (pH were positive -7.18, bicarbonate -4.4 mmol/) with increased anion gap and increased serum lactate. Glycosylated Hb was high (16.2%). She received treatment with insulin drip, IV fluids and antibiotics. Acidosis and sensorium improved over the next 24 hours after which she was referred to our institution. She weighed 6 kg (<3rd centile) and measured 72 cm in length. She was given subcutaneous regular insulin of 0.5 u/kg/day with daily monitoring of blood glucose. Insulin had to be gradually decreased and then stopped within 7 days as she had frequent hypoglycemia. She was re-admitted within 7 days for vomiting, dehydration, tachypnea and drowsiness . Investigations revealed WBC of 3400/cmm with normal platelet count , metabolic acidosis, blood glucose of 349 mg%, urine positive for ketones and high serum ammonia of 202 mcg/dL. She was treated with IV fluids and subcutaneous insulin after which she improved within 24 hours. Urine was analysed with a suspicion of organic acidemia by gas chromatography/mass spectrometry, revealed increased excretion of glycine, 3-hydroxypropionic acid, 3-hydroxybutyric acid, 3-hydroxyvalerate, propionyl glycine, tiglylglycine and methylcitrate, which are the biochemical marker compounds of propionic acidemia. Biotin (10mg) and carnitine was added to the therapy and diet with low proteins (1 g/kg/day) was given.

Our initial diagnosis in this patient was type 1 diabetis mellitus. However, rapid response and recurrent hypoglycemia on insulin therapy, leucopenia, thrombocytopenia and hyperammo-nemia made us suspect an organic acidemia. Most patients with propionic acidemia present with acute episodes of metabolic acidosis, hypoglycemia, hyperammonemia and characteristic organic aciduria due to the decreased activity of intra-mitochondrial enzyme propionyl CoA carboxylase before they are a few months old.

In our patient, severe hyperglycemia with ketoacidosis was the first life threatening presentation of propionic acidemia to emphasize that hyperglycemia with ketoacidosis is not always diabetes. One should think of propionic acidemia, especially if there is young age of presentation, hyperammonemia, leukopenia, thrombocytopenia and insulin therapy gets withdrawn rapidly.