Inherited Metabolic Disorders in Thailandt

PORNSWAN WASANT,M.D.*, JISNUSON SVA STI, Ph.D.**, CHANTRAGAN SRISOMSAP, Ph.D.***, SOMPORN LIAMMONGKOLKUL, M.Sc.*,

Affiliation : * Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, ** Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok 10400, *** Chulabhom Research Institute, Bangkok 10210, Thailand. t Presented at the 44'h Annual Meeting of the Japanese Society of Inherited Metabolic Disease (JSIMD) in "First Asian Symposium on Inborn Errors of Metabolism", Kurume, Japan, November 8-10,2001.

AbstractThe study of inborn errors of metabolism (IEM) in Thailand is in its infancy. The majority are clinically diagnosed since there are only a handful of clinicians and scientists with expertise in inherited metabolic disorders, shortage of well - equipped laboratory facilities and lack of govern mental financial support. Genetic metabolic disorders are usually not considered a priority due to prevalence of infectious diseases and congenital infections. From a retrospective study at the Medical Genetics Unit, Department of Pediatrics, Siriraj Hospital; estimated pediatrics patients with suspected IEM were approximately 2-3 per cent of the total pediatric admissions of over 5,000 annually. After more than 10 years of research and accumulated clinical experiences, a genetic metabolic center is being established in collaboration with expert laboratories both in Bangkok (Chulabhom Research Institute) and abroad (Japan and the United States). Numerous inherited metabolic disorders were identified - carbohydrate, amino acids, organic acids, mitochondrial fatty acid oxidation, peroxiso mal, mucopolysaccharidoses etc.
This report includes the establishment of genetic metabolic center in Thailand, research and pilot studies in newborn screening in Thailand and a multicenter study from 5 institutions (Children's National Center, King Chulalongkom Memorial Hospital, Pramongkutklao Hospital, Ramathibodi and Siriraj Hospitals). Inherited metabolic disorders reported are fructose-!, 6-bispfios- phatase deficiency, phenylketonuria, homocystinuria, nonketotic hyperglycinemia, urea cycle defect (arginino succinate lyase deficiency, argininosuccinate synthetase deficiency), Menkes disease, pro pionic acidemia and mucopolysaccharidoses (Hurler, Hurler-Scheie).

Keywords : Inherited Metabolic Disorders, Genetic Metabolic Center, Multicenter Study of Inherited Metabolic Disorders in Thailand

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