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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Figure 2

Levels of lactate (A), pyruvate (B), glucose (C) and 3OHbutyrate (D) in supernatants from patient fibroblast’s cultured in basal condition and after LIPT1 transfection. P: patient, C: control. A-B: Lactate (L) and pyruvate (P) levels were significantly increased in fibroblast supernatants compared to controls and they were dramatically decreased after LIPT1 transfection. C-D: the level of 3OHbutyrate also decreased with a concomitant increase of glucose suggesting that the cells metabolized 3OHbutyrate upon partial rescue of α-KGDH activity. Data are represented as mean ± SEM.

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