Clinical presentations of infantile hyper-ammonia syndrome

Short communication


Khaled A Youseif, Rabia M Gwedar, and Fauzi A Sagher

Department of Paediatric Gastroenterology, Hepatology and Nutrition. Tripoli Medical Centre.
Faculty of Medicine, Elfateh University, Tripoli, Libya

JMJ Vol.4 No. 3 (Winter) 2005: 211-214


Objectives: Ten patients with hyper-ammonia were revised to improve early recognition and management of this potentially lethal disorder. Methods: Hyper-ammonia diagnosed in our patients clinically and biochemically within one year period (three with urea cycle defects, two lactic acidaemia, three organic acidaemia, two fatty acid oxidation defect). Clinical history, clinical symptoms and signs, and biochemical investigations were studied in all patients. Results: Mean age of 1st clinical presentation was 2.475 months (range 1 week to 11 months) with M:F ratio 8:2, 40% with history of 1st cousin consanguinity and 30% with positive family history. The mean age on admission to our department was 7 months (range 2 months – 2.5 years). Clinically: 50% had persistent vomiting, 60% had hypotonia / spasticity, 40% had convulsion, and 10% had history of bleeding. Conclusion: Hyper-ammonia syndrome is not uncommon. Paediatrician should be aware of this possibility when seeing infants with persistent vomiting, convulsion or CNS manifestations.

Keywords: Hyper-ammonia, Metabolic acidosis, Inborn error of metabolism, Persistent vomiting, High anion gap, Low blood urea