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    Clin Chem. 1989 Oct;35(10):2148-51.

    Biochemical contribution to diagnosis and study of a new case of D-glyceric acidemia/aciduria.

    Fontaine M, Porchet N, Largilliere C, Marrakchi S, Lhermitte M, Aubert JP, Degand P.

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    Laboratoire de Biochimie, Hôpital Huriez, Centre Hospitalier, Régional et Universitaire, Lille, France.

    Abstract

    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.

    PMID:
    2551543
    [PubMed - indexed for MEDLINE]
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