Abstract
Argininosuccinic acidemia is an autosomal recessive disorder of the urea cycle caused by argininosuccinase deficiency. A 2 day old male developed seizures and respiratory distress, EEG showed status epilepticus pattern, and at 4 days of age he lapsed into coma. Blood amonia was 1800 μg/dl (normal 10-150), blood amino acids revealed argininosuccinic acid (ASA) 196.98 μmol/dl and anhydro ASA 174.12 μmol/dl. Urine ASA was 34.7 Gm/Gm creatinine and anhydro ASA was 39.5 Gm/Gm creatinine. A micro assay for argininosuccinase was developed, which showed no dectable activity in patient's RBC's while a control sample released 2.77 μmol (± 0.63) of ornithine/h/ml of whole blood.Treatment with exchange transufions and peritoneal dialysis reduced blood ammonia only slightly to 1100 μg/dl. Dramatic reduction of ammonia to 300 μg/dl occurred 24 h after intravenous therapy with 4 mM/Kg/day of arginine hydrochloride and 250 mg/Kg/day of sodium benzoate. The baby improved and his EEG became normal. At 9 months, the baby's height, weight, and head circumference are within the 50th percentile. Frequent developmental assesments have been within the normal range. Currently the baby is on 1.7 Gm/Kg of protein with arginine supplementation of 1 mM to 4 mM/Kg/day depending on the blood arginine levels. A biochemical and enzymic diagnosis of argininosuccinic acidemia can be made in the newborn period. Arginine therapy is superior to other forms of treatment in preventing hyperammonemia and neurological damage.
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Matalon, R., Michals, K., Gross, S. et al. 1159 DIAGNOSIS, TREATMENT AND FOLLOW UP OF NEONATAL ARGINOSUCCINIC ACIDEMIA. Pediatr Res 15 (Suppl 4), 636 (1981). https://doi.org/10.1203/00006450-198104001-01185
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DOI: https://doi.org/10.1203/00006450-198104001-01185