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Title: Inherited metabolic disorders in Thailand - Siriraj experience
Authors: Pornswan Wasant
Jisnuson Svasti
Chantragan Srisomsap
Somporn Liammongkolkul
Edwin W. Naylor
Isamu Matsumoto
Mahidol University
Chulabhorn Research Institute
University of Pittsburgh Medical Center, Magee-Womens Hospital
Matsumoto Institute of Life Sciences
Keywords: Medicine
Issue Date: 1-Dec-1999
Citation: Southeast Asian Journal of Tropical Medicine and Public Health. Vol.30, No.SUPPL. 2 (1999), 124-137
Abstract: The incidence of inborn erros of metabolism (IEM) in Thailand is yet unknown. However, by estimation it is generally accepted to be 1 in 5,000. From a survey in 7 medical schools from different parts of the country and a large pediatric hospital in Bangkok, we found numerous cases of IEM nationwide. These were amino acid disorders, carbohydrate disorders, urea cycle defects, peroxisomal, lysosomal storage disorders and many others. Since Thais are quite homogeneous in their genetic make-up; it is, therefore. very likely that IEM is much more prevalent than we realixed. With the exception of thalassemias, IEM is probably very common in Thailand and other countries in the Asia-Pacific region. IEM identified were amino acid disorders eg phenylketonuria, maple syrup urine disease; urea cycle disorders eg ornithine transcarbamylase deficiency (OTC), argininosuccinic lyase deficiency (ALD), argininosuccinic acid synthetase deficiency (ASD); glycogen storage disorders eg Pompe's disease, Von Gierke's; organic acid disorders eg isovaleric acidemia, methylmalonic acidemia. Lysosomal storage disorders identified were GMI gangliosidosis, mucolipidosis II. Hurler, Hunter, Maroteaux-Lamy, Sialidosis (neuraminidase deficiency), Sly, Scheie, Gaucher, Niemann-Pick, Sandhoff and many other neurodegenerative disorders eg neuronal ceroid lipofuscinosis (NCL). leucodystrophies etc. Peroxisomal disorders identified were rhizomelic chondrodysplasia punctata (RCDP) and Zcllweger. Recently fatty acid oxidation disorders: MCAD. translocase deficiency and multiple carboxylase deficiency (biotinidase deficiency) were also identified.
ISSN: 01251562
Appears in Collections:Scopus 1991-2000

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