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Argininosuccinic aciduria

Report of two new cases and demonstration of intermittent elevation of blood ammonia
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      Abstract

      In the process of a routine survey of mentally retarded children, two brothers were found to have argininosuccinic aciduria. The older brother, now age seventeen years, excretes up to 9 gm. of argininosuccinic acid per day. The younger brother, age five years, excretes approximately 2 gm. per day. Both patients have had brief generalized seizures, and the older brother has been ataxic intermittently. Both patients have intelligence quotients of between 30 and 40. No abnormality of hair has been found. The parents are first cousins once removed.
      The concentration of argininosuccinic acid in spinal fluid in both patients was between 8 and 10 mg. per 100 ml., that in the blood 2.5 mg. per 100 ml. Intermittent elevation of blood ammonia up to 400 μg. per 100 ml. has been demonstrated in the older patient. Plasma citrulline levels are elevated in both patients, and are higher than those in their spinal fluid. The patients' red blood cells have no demonstrable argininosuccinase activity. Argininosuccinic acid is not demonstrable in the parents' urine, but argininosuccinase activity in their red blood cells is less than normal.
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