Document Detail

Organic acidurias and related abnormalities.
MedLine Citation:
PMID:  7576158     Owner:  NLM     Status:  MEDLINE    
Organic acid analysis is a powerful technique in the diagnosis of inborn errors of metabolism. Since the development of the technique over twenty-five years ago, it has evolved into a sophisticated and powerful method and is an essential tool in the diagnosis of the organic acidurias. The chemistry and biochemistry of organic acids, as well as sample preparation, instrumentation, and many aspects of the more commonly used methods for the analysis of these compounds, are reviewed. The biochemical and clinical characteristics of each of the primary organic acidurias are described. In addition, the various noninherited causes of secondary organic acidurias that lead to the excretion of abnormal organic acids are also described, and ways of differentiating primary from secondary causes are discussed.
D C Lehotay; J T Clarke
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Critical reviews in clinical laboratory sciences     Volume:  32     ISSN:  1040-8363     ISO Abbreviation:  Crit Rev Clin Lab Sci     Publication Date:  1995  
Date Detail:
Created Date:  1995-12-27     Completed Date:  1995-12-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8914816     Medline TA:  Crit Rev Clin Lab Sci     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  377-429     Citation Subset:  IM    
Department of Clinical Biochemistry, Hospital for Sick Children, University of Toronto, Ontario, Canada.
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MeSH Terms
Acids / analysis,  chemistry,  urine*
Carnitine / deficiency
Diet / adverse effects
Gas Chromatography-Mass Spectrometry
Infant, Newborn
Lactates / metabolism
Lactic Acid
Metabolism, Inborn Errors / diagnosis,  urine*
Reg. No./Substance:
0/Acids; 0/Lactates; 50-21-5/Lactic Acid; 541-15-1/Carnitine

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