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Clinical Chemistry 35: 2148-2151, 1989;
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Clinical Chemistry, Vol 35, 2148-2151, Copyright © 1989 by American Association for Clinical Chemistry

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

M Fontaine, N Porchet, C Largilliere, S Marrakchi, M Lhermitte, JP Aubert and P Degand
Laboratoire de Biochimie, Hopital Huriez, Centre Hospitalier, Regional et Universitaire, Lille, France.

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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Copyright © 1989 by the American Association for Clinical Chemistry.