Inborn errors of metabolism discovered in Asian department of pediatrics and mental retardation research center

To heighten the effectiveness of chemical diagnosis for inborn errors of me tabolism (IEM) using urease pretreatment and GC-MS analysis, a sample colle ction and transportation method was contrived. The resulting "filter paper set" allows simple urine collection and transportation, and enables anyone from anywhere to receive the GC-MS analysis without the limitations of plac e or time. Using filter paper sets, high-risk screening of undiagnosed chil dren or mentally retarded children with unknown cause was conducted in coop eration with hospitals and universities in several Asian countries. During 8 months 203 patients from China and India were analyzed and 20 cases of IE M were chemically diagnosed. These diagnoses greatly contributed to the tre atment of children with intractable diseases who lived in Asian countries w here analytical techniques and facilities for IEM were not sufficient. (C) 2000 Elsevier Science B.V. All rights reserved.