Guffon, N 2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case. [electronic resource] - Journal of inherited metabolic disease 1993 - 821-30 p. digital Publication Type: Case Reports; Journal Article ISSN: 0141-8955 Standard No.: 10.1007/BF00714273 doi Subjects--Topical Terms: Acidosis, Lactic--bloodChildChild, PreschoolFemaleFibroblasts--metabolismHumansKetoglutarate Dehydrogenase Complex--deficiencyMaleMuscles--metabolismOxidation-ReductionPsychotic Disorders--enzymology