Abstract
The neonatal form of argininosuccinic aciduria (ASA) is usually fulminating and lethal. J.V. presented at two days of age with this variant and is developnentally normal at four months.
At two days of age, following milk feedings, J.V. became hypothermic and lethargic. He had respiratory alkalosis (ph=7.57), hyperammonemia (771 μg/dl) and ASA. EEG was diffusely abnormal. Family history was negative. Therapy included mechanical ventilation, peritoneal dialysis and gut sterilization. An initial protein free formula was followed by a 1.6 gm protein/kg/d formula at 16 days of age, after his blood ammonia had fallen below 200 μg/dl. Urine quantitation had 328 mg/d of ASA (normal = trace). Skin culture assay for argininosuccinase activity showed J.V. had 0.006/<moles urea/ mg protein/hr, his parents 0.044 and 0.049, with the control of 0.073.
At four months J.V. has normal blood ammonia (38 μg/dl) on a 1.6 gm protein/kg/d diet. Growth parameters are all at the third percentlie. Denver Developmental, neurological, and EEG are all currently normal. ASA should be considered in neonates presenting with signs of sepsis because even the “ fulminant ” form of the disease may be amenable to aggressive medical therapy.
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Rathbun, M., Bryson, M., Myers, G. et al. ARGININOSUCCINIC ACIDURIA: A SURVIVOR OF THE NEONATAL VARIANT. Pediatr Res 11, 462 (1977). https://doi.org/10.1203/00006450-197704000-00554
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DOI: https://doi.org/10.1203/00006450-197704000-00554