Urinary Metabolic Screening of Mentally Retarded Patients from Institutions in the Northern Part of Sweden

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Abstract
A urinary ‘metabolic screening’ examination of 1,660 patients from 30 institutions for the mentally retarded in northern Sweden was performed. Mucopolysaccharidosis was demonstrated in 3 patients. With high voltage paper electrophoresis and qualitative chemical tests, overflow aminoaciduria was demonstrated in 13 patients, i.e. phenylketonuria, 9; homocystinuria, 3; and histidinemia, 1. Renal aminoaciduria was demonstrated in 4 patients, i.e., Lowe’s syndrome, 1; normoglycinemic glycinuria, 1; glycine- and histidinuria, 1; and glycine-, histidine- and lysinuria, 1. 19 patients had a transitorily increased amino acid excretion of uncertain significance. An abnormal electrophoretic pattern caused by ampicillin derivatives was seen in 9 patients. The risk of an overestimation of aminoaciduria in screening surveys is emphasized.

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