At 19 months of age, the infant presented for a third time to the emergency room with vomiting, poor oral intake and lethargy. The patient exhibited tachycardia (heart rate 191 beats/min), tachypnea (respiratory rate 30 breaths/min, oxygen saturation 100%) and dehydration with cold extremities and prolonged capillary refill. He was afebrile. Capillary blood gas analysis showed pH 7.43, partial pressure of carbon dioxide 29 mmHg and a calculated bicarbonate level of 18.7 mM. His lactate levels and anion gap were normal, and his hepatic workup demonstrated a mildly elevated INR of 1.52 and normal transaminase levels. Because of the patient’s lethargy, his plasma ammonia level was tested and was found to be elevated (179 pM). Additional laboratory tests confirmed the diagnosis.CLINICAL PEARLS
• Late-onset UCDs are life-threatening but treatable disorders that should be considered in the differential diagnosis of infants and toddlers presenting with protein avoidance, psychosis, behavioural changes, recurrent vomiting, episodic ataxia, seizures, unexplained coma and acute liver dysfunction.
• Plasma ammonia, plasma amino acid and urinary orotic acid levels should be tested promptly when suspecting UCDs. Find very low prices on non-prescription drugs – canadian cialis online for smart customers.