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  • Title: [Pathological and biochemical studies on a neonatal case of argininosuccinic aciduria (author's transl)].
    Author: Farriaux JP, Dhondt JL, Formstecher P, Martin JJ, Pollitt RJ, Knit J, Lagrou A, Mardens Y, Fontaine G.
    Journal: Acta Neurol Belg; 1976; 76(1):26-34. PubMed ID: 961372.
    Abstract:
    A newborn infant affected by argininosuccinic aciduria was treated with a hypoproteinaemic diet and survived up to the age of three months. Post mortem biochemical studies have confirmed the absence of argininosuccinase activity in kidney, liver and brain and a marked storage of argininosuccinic acid in the brain. The histological study of the central nervous system shows no Alzheimer type II cells; there is neither demyelination nor spongiosis. Such results are totally different from those recorded in untreated cases; they represent very likely the effects of the diet which has controlled the hyperammoniaemia and prevented a deficiency of arginine.
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