[Screening for congenital metabolic diseases in mentally retarded patients in 6 psychiatric institutions of Lower Saxony].
The results of screening for inborn errors of metabolism in patients in six institutions for the mentally retarded in Lower Saxony are presented. A battery of standard chemical and chromatographic tests for amino acids, carbohydrates and mucopolysaccharides in urine were employed. Combined gas chromatography-mass spectrometry was used to detect organic aciduria. All together 975 patients - 347 females and 628 males - aged from 5 to 93 years were studied. 78.6% of the patients were over 20 years of age. There were positive findings in 56 cases: phenylketonuria (n = 8), alcaptonuria (1), pentosuria (5), galactosuria (2), tryptophanuria (1), xanthurenic aciduria (3), mucopolysaccharidosis type III A (1), hyperglycinemia with hyperglycinuria (1), renal hyperaminoaciduria (9, lactic aciduria (3), 4-hydroxyphenylaceticaciduria (2), organic aciduria (12) and mellituria (8) of unknown type. The organic acids most often detected in urine were lactic, 4-hydroxyphenylacetic and 3-hydroxybutyric acids. Only 20 of the patients (2.0%) excreted appreciable amounts of benzoic acid in urine. The results are discussed and compared with other investigations.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002849:Chromatography, Gas; D002855:Chromatography, Thin Layer; D005260:Female; D005860:Germany, West; D006778:Hospitals, Psychiatric; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology* / Q000652:urine; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000652:urine; D008875:Middle Aged
Screeninguntersuchungen auf angeborene Stoffwechselerkrankungen bei geistig retardierten Patienten in 6 psychiatrischen Anstalten Niedersachsens.