Argininemia treated from birth

Abstract

pregnancy and a normal spontaneous delivery. Apgar scores were 9 and 10 at 1 and 5 minutes. Birth weight was 3.8 kg and physical examination was completely normal. At three hours of age the plasm a arginine level was .4.0 mg/dl (normal average 1.3) and arginase activity was not detectable in the erythrocytes. Repeated /tssays of erythrocyte arginase activity all revealed less than 5% of normal activity. Red blood cell arginine level determined just before the initiation of therapy was 4.22 mg/dl (normal 0.4). The infant was given glucose water until the essential amino acid mixture was started at 18 hours of age; a milk formula was never offered. The mixture was fed in an amount to provid? the equivalent of 2 gm of protein per kg of body weight. It was supplemented with Mead Johnson product 80056* to furnish a total caloric intake of 125 calories/kg. This was the only feeding for the first four months of life. After this, fruits, low protein vegetables and rice cereal were introduced. The diet was later supplemented with various protein-free products such as special bread, cookies, pasta, etc. The natural protein intake has never exceeded 5 grams/day, which provides an estimated 250 to 300 rag/day of arginine.