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Abstract

Abstract


A total of 21 patients were admitted to Aga Khan University Hospital with suspected congenital hyperam­monemias during the period 1989 to 1992. There were 11 patients with acidosis and 10 patients were without acidosis. Prominent clinical manifestations included positive family history (76%), onset in the first week of life (67%) and neurological manifestations (76%). Of patients with hyperammonemia and acidosis, 4 had severe metabolic acidosis with anion gap of 3OmEq/L and above. Of patients with hyperammonemia without acidosis, 4 had ammonia level ranging from 1600-2000 mg/dl. Diagnosis was confirmed in only 1 patient and that was also done abroad. Overall mortality was 71%. In conclusion, these disorders are not uncommon in our country and should be suspected in all infants with above clinical or biochemical abnormalities