1159 diagnosis, treatment and follow up of neonatal arginosuccinic acidemia

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. ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Depts. of Pediatrics, Univ. of Ill., Chicago, Ill. Reuben Matalon, Kimberlee Michals, Steven

Gross, Mark L Batshaw & Saul W Brusllow * Johns Hopkins School of Medicine, Baltimore, Md. Reuben Matalon, Kimberlee Michals, Steven Gross, Mark L Batshaw & Saul W Brusllow Authors

* Reuben Matalon View author publications You can also search for this author inPubMed Google Scholar * Kimberlee Michals View author publications You can also search for this author

inPubMed Google Scholar * Steven Gross View author publications You can also search for this author inPubMed Google Scholar * Mark L Batshaw View author publications You can also search for

this author inPubMed Google Scholar * Saul W Brusllow View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions

ABOUT THIS ARTICLE CITE THIS ARTICLE 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 Download citation * Issue Date: 01 April 1981 * DOI: https://doi.org/10.1203/00006450-198104001-01185 SHARE THIS ARTICLE Anyone you

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