Publication: Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry
Issued Date
1999-12-01
Resource Type
ISSN
01251562
Other identifier(s)
2-s2.0-0347181621
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Southeast Asian Journal of Tropical Medicine and Public Health. Vol.30, No.SUPPL. 2 (1999), 160-165
Suggested Citation
Pornswan Wasant, Isamu Matsumoto, Somporn Liammongkolkul Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry. Southeast Asian Journal of Tropical Medicine and Public Health. Vol.30, No.SUPPL. 2 (1999), 160-165. Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/25529
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Title
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry
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Abstract
We had studied inherited metabolic disorders at the Department of Pediatrics, Siriraj Hospital Faculty of Medicine, Mahidol University since 1987 using limited resources available and collaboration with other laboratories, both in Thailand and The United States. Since April 1998, we started a collaboration with MILS and Kanazawa Medical University, the Japan, studying inborn errors of metabolism in Asian Countries using urine filter paper and a new GC/MS method. We have since successfully discovered several patients with metabolic disorders. Out of 33 (high-risk) cases we sent for biochemical diagnosis (during April-July 1998), 13 abnormal results were found which is approximately 39.4%. Inherited metabolic disorders identified were as follows: medium-chain acyl CoA dehydrogenase deficiency (MCAD), multiple carboxylase deficiency (MCD), methylmalonic acidemia (MMA), Fanconi syndrome, galactosemia and neuroblastoma.