Abstract | BACKGROUND: Disorders of organic acid (OA) metabolism are generally detected by qualitative analysis of urine organic acids by gas chromatography/mass spectrometry (GC/MS) which was well established in developed countries since 1980s. Confirmation of the diagnosis of organic acid disorders by OA analysis, enzyme analysis and molecular study is a difficult task in developing countries. METHODS: During 2001-2004, we had analysed 442 urine samples in 365 patients and identified 12 cases of organic acid disorders. RESULTS: CONCLUSIONS: OA disorders had never been diagnosed in Thailand before, until GC/MS technology was introduced to Thailand in 2001. Urine OA analysis also provided a diagnostic clue to other inborn errors of metabolism including amino acid disorders, urea cycle disorders, disorders of carbohydrate metabolism, and mitochondrial fatty acid oxidation disorders. Since then, we were able to diagnose numerous disorders, which led to prompt treatment and better outcome in our patients.
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Authors | Pornswan Wasant, Somporn Liammongkolkul, Chulaluck Kuptanon, Nithiwat Vatanavicharn, Achara Sathienkijakanchai, Toshihiro Shinka |
Journal | Clinica chimica acta; international journal of clinical chemistry
(Clin Chim Acta)
Vol. 392
Issue 1-2
Pg. 63-8
(Jun 2008)
ISSN: 0009-8981 [Print] Netherlands |
PMID | 18339316
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Carboxylic Acids
(urine)
- Child, Preschool
- Female
- Humans
- Infant
- Infant, Newborn
- Male
- Metabolism, Inborn Errors
(diagnosis, urine)
- Thailand
- Urinalysis
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