Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland

Abstract

Urines from 2,081 mentally retarded individuals in Northern Ireland have been examined by qualitative chemical tests and chromatographic techniques in order to detect any inborn errors of metabolism which might be a contributory factor responsible for the brain damage in these people. The following abnormalities were discovered: phenylketonuria, 49 cases; argininosuccinic aciduria, two cases; cerebro-ocular-renal syndrome of Lowe, one case; galactosaemia, three cases; gargoylism, three cases; Lignac-Fanconi syndrome, one case, a so far undescribed abnormality in cystine metabolism, homocystinuria, and a miscellaneous collection of general and specific aminoacidurias which are at present under investigation.