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

• Published in: Journal of chromatography. B, Biomedical sciences and applications Vol. 746; no. 1; pp. 41 - 49
• Main Authors: Zhang, Chunhua, Xu, Keming, Dave, Usha P, Wang, Ying, Matsumoto, Isamu
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier B.V 01.09.2000; Elsevier Science
• Subjects: Adolescent; Adult; Analytical biochemistry: general aspects, technics, instrumentation; Analytical, structural and metabolic biochemistry; Asia; Biological and medical sciences; Child; Child, Preschool; Errors of metabolism; Female; Fundamental and applied biological sciences. Psychology; Gas Chromatography-Mass Spectrometry - methods; GC–MS; Humans; Inborn errors of metabolism; Male; Medical sciences; Metabolic diseases; Metabolism, Inborn Errors - diagnosis; Miscellaneous hereditary metabolic disorders; Asia; GC–MS; Inborn errors of metabolism; Human; Urine; Gas chromatography; Screening; Biological fluid; Analytical method; Metabolic diseases; Filter paper; Diagnosis; Child; Congenital disease; Mass spectrometry
• ISSN: 0378-4347; 1387-2273
• DOI: 10.1016/S0378-4347(00)00087-6

To heighten the effectiveness of chemical diagnosis for inborn errors of metabolism (IEM) using urease pretreatment and GC–MS analysis, a sample collection 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 place or time. Using filter paper sets, high-risk screening of undiagnosed children or mentally retarded children with unknown cause was conducted in cooperation with hospitals and universities in several Asian countries. During 8 months 203 patients from China and India were analyzed and 20 cases of IEM were chemically diagnosed. These diagnoses greatly contributed to the treatment of children with intractable diseases who lived in Asian countries where analytical techniques and facilities for IEM were not sufficient.