Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia...

The charts of 16 patients with branched chain amino acidemia (MSUD) who had 48 emergency room (ER) visits, of 10 patients with propionic acidemia (PA) who had 57 ER visit, and of 13 patients with methylmalonic acidemia (MMA) who had 154 ER visits, were reviewed retrospectively for the most common clinical presentations, physical and laboratory findings. The most common clinical presentation was acute or chronic vomiting and the most common physical finding was dehydration. When hypoglycemia was found, the mental status of 55% of patients with MSUD and MMA and 20% of patients with PA, was alert. Mixed acid/base disturbance, i.e. alkalosis caused by vomiting mixed with metabolic acidosis caused by the disease, was present in 30% of MSUD, in 33% of PA, and 45% of MMA. There was no relationship between acidosis detected by the blood pH and mental status of the patients. A good correlation between base excess < -5 and serum bicarbonate < 21 mmol/l was found. Blood cultures were positive for bacteria and fungi in 15% of the visits with MSUD, in 23% with PA, and 3% with MMA. Patients with positive blood cultures did not necessarily have a temperature > 39 degrees C nor hypothermia. The results suggest that the mental status of the patients should not detract the ER physician from obtaining blood pH, gases and glucose and in all instances a blood culture should be secured, even if the patient has no fever.