January 1967

Treatment of Arginosuccinic Aciduria

Author Affiliations

From the Medical Unit, University College Hospital Medical School, London.

Am J Dis Child. 1967;113(1):160-161. doi:10.1001/archpedi.1967.02090160210035

THE DISEASE we now call arginosuccinic aciduria was first described by Allan et al in 1958.1 The then unknown metabolite which was being excreted in the urine of their patients, in amounts of up to 3 gm/day was later identified as arginosuccinic acid (ASA) (Westall, 1960).2 In 1961 another case, diagnosed at 1 month of age, was reported by Levin et al.3 At the present time at least 12 cases are known, 10 of which are summarized by Efron (1966).4 All the cases have some degree of mental retardation but the case histories vary in their reports on the incidence of convulsions, ataxia, and severe vomiting. Most of the younger cases had abnormal hair which indicated the condition known as trichorrhexis nodosa ("fragile hair with knobs on").

Allan et al, in their original description of the disease, considered it probably hereditary. Subsequent cases have tended to

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