title: Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland.
abstract: Urinary oligosaccharides were screened with thin-layer chromatography among 1058 mentally retarded patients of a geographically defined area with an approximate population of 200,000. Aspartylglucosaminuria was detected in 26 cases and Salla disease in 24 cases. All patients with aspartylglucosaminuria had the correct diagnosis before the screening, whereas two new cases of Salla disease were detected. No other inherited metabolic diseases were found. The results demonstrate the accuracy of the TLC method, and indicate a high gene frequency of those two lysosomal storage diseases in the population of northern Finland.
mesh_terms: D000293:Adolescent; D000328:Adult; D001227:Aspartylglucosylaminase / Q000652:urine; D002855:Chromatography, Thin Layer; D005260:Female; D005387:Finland; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D008297:Male; D008403:Mass Screening; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology; D019158:N-Acetylneuraminic Acid; D012794:Sialic Acids / Q000652:urine
chemical_list: D012794:Sialic Acids; D001227:Aspartylglucosylaminase; D019158:N-Acetylneuraminic Acid