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

Table 2 Biochemical investigations

	Patient	Control
Enzyme activities (pmol/min/mg protein)
ketoglutarate dehydrogenase (α-KGDH)	900	7000
Isocitrate dehydrogenase (IDH)	21000	23000
Pyruvate dehydrogenase (PDH)	90	1117
Citrate Synthase (SC)	27000	48000
Polarographic study (nmolO2/min/mg protein)
Pyruvate + malate	6.2	31.1 +/- 2
Malate + glutamate	5.4	28.9 +/- 4.5
CO ₂ production (nmol/h/mg of protein)
Butyrate	1.5	6
Octanoate	0.9	3.4
Palmitate	1.6	3.5
Glucose (1 mmol/l)	2.8	7.8
Glucose (10 mmol/l)	3.7	8.8
OH butyrate (1 mmol/l)	0.8	3
OH butyrate (10 mmol/l)	2.3	8.5

PDHc, α-KGDHc activities and polarographic studies on patient and control skin fibroblasts, CO₂ production after administration of ¹⁴C-3OHbutyrate, ¹⁴C-glucose or ¹⁴C- butyrate in fibroblasts of the patient and a control.

ISSN: 1750-1172