title: Inborn errors of metabolism in Singapore.
abstract: Between 1992 and 1994 the Paediatric Metabolic Centre screened 403 patients for inherited metabolic disease. Seventeen patients were diagnosed, including 7 with organic acidurias, 5 with mucopolysaccharidoses, 2 with amino acid disorders, 2 with carbohydrate disorders and 1 with hyperlipidaemia. The ethnic distribution of disorders in Singapore is compared with incidences reported by others in this part of the world. It is likely that further studies will indicate which diagnostic or screening tests would best serve this community.
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005006:Ethnicity; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000453:epidemiology* / Q000378:metabolism; D012846:Singapore / Q000453:epidemiology