| Biochemical contribution to diagnosis and study of a new case of D-glyceric acidemia/aciduria. | |
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MedLine Citation:
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PMID: 2551543 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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During organic acid screening by gas chromatography/mass spectrometry, we detected a large peak corresponding to glyceric acid in a patient's urine sample. The D(+) configuration was demonstrated by a polarimetric method and by enzymatic stereospecificity of D-glycerate dehydrogenase (EC 1.1.1.29). We biochemically investigated this fifth reported case of D-glyceric acidemia. In our patient, loading tests with L-serine and fructose led to an increase of D-glyceric acid in both plasma and urine. Determination of other metabolites involved in D-glycerate metabolism revealed no abnormality in any sample examined. After comparing all our results with those of the preceding observations described in the literature, we suggest a possible enzymatic defect located on one of the metabolic pathways shared by fructose and L-serine, possibly at the level of hepatic D-glycerate kinase (EC 2.7.1.31). Nevertheless, a primary defect of L-serine catabolism cannot be entirely excluded. |
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Authors:
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M Fontaine; N Porchet; C Largilliere; S Marrakchi; M Lhermitte; J P Aubert; P Degand |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Clinical chemistry Volume: 35 ISSN: 0009-9147 ISO Abbreviation: Clin. Chem. Publication Date: 1989 Oct |
Date Detail:
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Created Date: 1989-11-17 Completed Date: 1989-11-17 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 9421549 Medline TA: Clin Chem Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 2148-51 Citation Subset: IM |
Affiliation:
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Laboratoire de Biochimie, Hôpital Huriez, Centre Hospitalier, Régional et Universitaire, Lille, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chemical Phenomena Chemistry Female Fructose / diagnostic use Gas Chromatography-Mass Spectrometry Glyceric Acids / metabolism, urine* Humans Indicators and Reagents Infant Metabolism, Inborn Errors / diagnosis*, urine Phosphotransferases / metabolism* Phosphotransferases (Alcohol Group Acceptor)* Serine / diagnostic use |
| Chemical | |
Reg. No./Substance:
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0/Glyceric Acids; 0/Indicators and Reagents; 30237-26-4/Fructose; 473-81-4/glyceric acid; 56-45-1/Serine; EC 2.7.-/Phosphotransferases; EC 2.7.1.-/Phosphotransferases (Alcohol Group Acceptor); EC 2.7.1.31/glycerate kinase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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