Argininosuccinic aciduria. Report of three cases and the effect of high and reduced protein intake on the clinical state.

Abstract

ABSTRACT. Hambræus, L., Hardell, L. I., Westphal, O., Lorentsson, Rosa, and Hjorth, Gunilla (Department of Nutrition, Institute of Medical Chemistry, and Department of Pediatrics, University Hospital, University of Uppsala, Sweden). Argininosuccinic aciduria. Report of three cases and the effect of high and reduced protein intake on the clinical state. Acta Paediatr Scand, 63: 525, 1974.—Three girls with argininosuccinic aciduria (ASA) and hyperammonemia are reported. Two of them are siblings. They showed the typical clinical findings of ASA, i.e. developmental retardation, cerebellar ataxia and short brittle hair as well as episodes of changed behaviour or unconsciousness. The dietary history revealed that they all spontaneously had chosen a low‐protein diet, thus lowering the risks of hyperammonemia. The effect of different protein intake was studied by means of short time metabolic balance studies. High protein intake provoked clinical signs of encephalopathy, objectively registered EEG changes, most probably due to subsequent hyperammonemia. During 16–17 months follow‐up on a reduced protein intake—the easiest way to minimize the risks of hyperammonemia—no acute attacks of ammonia intoxication were observed but unfortunately the patients did not gain sufficiently in length.