| Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience. | |
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MedLine Citation:
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PMID: 18339316 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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: We identified the following disorders: alkaptonuria (ALK)=1, isovaleric acidemia (IVA)=3, propionic acidemia (PA)=2, methylmalonic acidemia (MMA)=3, glutaric aciduria, type I (GA-I)=1, multiple carboxylase deficiency (MCD)=1, and glutaric acidemia, type II (GA-II)=1. 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:
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Pornswan Wasant; Somporn Liammongkolkul; Chulaluck Kuptanon; Nithiwat Vatanavicharn; Achara Sathienkijakanchai; Toshihiro Shinka |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-02-23 |
Journal Detail:
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Title: Clinica chimica acta; international journal of clinical chemistry Volume: 392 ISSN: 0009-8981 ISO Abbreviation: Clin. Chim. Acta Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-05-06 Completed Date: 2008-07-31 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 1302422 Medline TA: Clin Chim Acta Country: Netherlands |
Other Details:
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Languages: eng Pagination: 63-8 Citation Subset: IM |
Affiliation:
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Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand. sipws@mahidol.ac.th |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Carboxylic Acids
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urine* Child, Preschool Female Humans Infant Infant, Newborn Male Metabolism, Inborn Errors / diagnosis*, urine Thailand Urinalysis |
| Chemical | |
Reg. No./Substance:
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0/Carboxylic Acids |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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