Document Detail

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.
MedLine Citation:
PMID:  12127325     Owner:  NLM     Status:  MEDLINE    
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.
Toshihiro Shinka; Yoshito Inoue; Morimasa Ohse; Akira Ito; Masaharu Ohfu; Shinichi Hirose; Tomiko Kuhara
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
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:
Created Date:  2002-07-19     Completed Date:  2002-10-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  101139554     Medline TA:  J Chromatogr B Analyt Technol Biomed Life Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  57-63     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Elsevier Science B.V.
Division of Human Genetics, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada-machi, Ishikawa 920-0293, Japan.
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MeSH Terms
Aldehyde Oxidoreductases / deficiency*
Gas Chromatography-Mass Spectrometry
Hydroxybutyrates / urine*
Metabolism, Inborn Errors / diagnosis,  urine*
Sensitivity and Specificity
Succinate-Semialdehyde Dehydrogenase
Reg. No./Substance:
0/Hydroxybutyrates; 591-81-1/4-hydroxybutyric acid; EC 1.2.-/Aldehyde Oxidoreductases; EC protein, human; EC Dehydrogenase

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