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Original ArticleOpen Access
Inherited Metabolic Disorders in Thailand
Wasant P 
,
Svasti J ,
Srisomsap C ,
Liammongkolkul S
,
Svasti J ,
Srisomsap C ,
Liammongkolkul S JISNUSON SV ASTI, Ph.D.**,
SOMPORN LIAMMONGKOLKUL, M.Sc.*,
The 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-
Vol. 8S Suppl 2
INHERITED METABOLIC DISORDERS IN THAILAND
S701
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).
Key word : Inherited Metabolic Disorders, Genetic Metabolic Center, Multicenter Study of Inherited
Metabolic Disorders in Thailand
WASANT P, SVASTI
SOMPORN LIAMMONGKOLKUL, M.Sc.*,
The 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-
Vol. 8S Suppl 2
INHERITED METABOLIC DISORDERS IN THAILAND
S701
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).
Key word : Inherited Metabolic Disorders, Genetic Metabolic Center, Multicenter Study of Inherited
Metabolic Disorders in Thailand
WASANT P, SVASTI
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