2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case.

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

0141-8955

10.1007/BF00714273 doi


Acidosis, Lactic--blood
Child
Child, Preschool
Female
Fibroblasts--metabolism
Humans
Ketoglutarate Dehydrogenase Complex--deficiency
Male
Muscles--metabolism
Oxidation-Reduction
Psychotic Disorders--enzymology