Screening for metabolic disorders associated with mental retardation

1. The results of a three year biochemical screening program in Saskatchewan for the detection of inborn errors of metabolism are described. 2. Urine was subjected to a battery of chemical screening tests and both one and two dimensional chromatography; blood was chromatographed in two dimensions. 3. Thirty-six hundred individuals have been screened of which 1700 were from institutions for the retarded, 1000 were seen as out-patients while the remainder were screened at the request of pediatricians and general practitioners. 4. The results are tabulated and compared with similar surveys. The following positive findings are described: phenylketonuria, tyrosinosis, galactosemia, homocystinuria, Morquio's Syndrome, Hunter's Syndrome, sucrosuria, cystinosis, alkaptonuria, hypophosphatasia, cystinuria, maple syrup urine disease, and generalized amino aciduria.