| Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency. | |
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MedLine Citation:
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PMID: 12127325 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe the rapid and sensitive detection of 4-hydroxybutyric acid, which is a marker compound for succinic semialdehyde dehydrogenase (SSADH) deficiency. Urinary 4-hydroxybutyric acid and 3,4-dihydroxybutyric acid were targeted, quantified by gas chromatography-mass spectrometry after simplified urease digestion in which lactone formation from gamma-hydroxy acids is minimized. The recovery of 4-hydroxybutyric acid using this method was over 93%. 2,2-Dimethylsuccinic acid was used as an internal standard. The detection limit of this method was 1 nmol ml(-1) for both 4-hydroxybutyric acid and 3,4-dihydroxybutyric acid. The urinary concentrations of 4-hydroxybutyric acid and of 3,4-dihydroxybutyric acid from the patient with an SSADH deficiency were 880-3628 mmol mol(-1) creatinine (control; 3.3+/-3.3 mmol mol(-1) creatinine) and 810-1366 mmol mol(-1) creatinine (control; 67.4+/-56.2 mmol mol(-1) creatinine), respectively. The simplified urease digestion of urine is very useful for quantifying 4-hydroxybutyric acid and its related compounds in patients with 4-hydroxybutyric aciduria. |
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Authors:
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Toshihiro Shinka; Yoshito Inoue; Morimasa Ohse; Akira Ito; Masaharu Ohfu; Shinichi Hirose; Tomiko Kuhara |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences Volume: 776 ISSN: 1570-0232 ISO Abbreviation: J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. Publication Date: 2002 Aug |
Date Detail:
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Created Date: 2002-07-19 Completed Date: 2002-10-01 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 101139554 Medline TA: J Chromatogr B Analyt Technol Biomed Life Sci Country: United States |
Other Details:
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Languages: eng Pagination: 57-63 Citation Subset: IM |
Copyright Information:
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Copyright 2002 Elsevier Science B.V. |
Affiliation:
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Division of Human Genetics, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada-machi, Ishikawa 920-0293, Japan. shinka@kanazawa-med.ac.jp |
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| MeSH Terms | |
Descriptor/Qualifier:
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Aldehyde Oxidoreductases
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deficiency* Gas Chromatography-Mass Spectrometry Humans Hydroxybutyrates / urine* Infant Metabolism, Inborn Errors / diagnosis, urine* Sensitivity and Specificity Succinate-Semialdehyde Dehydrogenase |
| Chemical | |
Reg. No./Substance:
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0/Hydroxybutyrates; 591-81-1/4-hydroxybutyric acid; EC 1.2.-/Aldehyde Oxidoreductases; EC 1.2.1.24/ALDH5A1 protein, human; EC 1.2.1.24/Succinate-Semialdehyde Dehydrogenase |
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