Table 1.

Analysis of mitochondrial respiratory chain function in the patient’s fibroblasts. (A,B) Spectrophotometric analysis of mitochondrial respiratory chain enzyme activities in glucose (A) and in galactose medium (B). CS, citrate synthase. Results are expressed as extreme absolute values or absolute values for controls or patient, respectively. Values are expressed in nanomols of substrate per minute per milligram of proteins (lowered values are in grey). (C,D) Polarographic analysis of the respiratory chain in glucose (C) and in galactose medium (D). G3P, glycerol 3-phosphate. The results have been expressed as extreme absolute values or absolute values for controls and the patient, respectively, in nanomols of oxygen per minute per milligram of proteins

(A) Spectrophotometric analysis on fibroblasts cultivated in glucose medium
Enzymatic activities	I	II	III	IV	V	CS
Control values (nmol/min/mg of proteins)	9.0–27.1	18.5–54.0	57.4–176.2	109.9–350.0	22.0–46.2	74.7–161.1
Patient	21.9	43.2	148.6	317.8	33.2	133.3
(B) Spectrophotometric analysis on fibroblasts cultivated in galactose medium
Enzymatic activities	I	II	III	IV	V	CS
Control values (nmol/min/mg of proteins)	15.2–20.1	28.2–48.0	88.8–143.0	181.7–315.4	22.7–47.5	124.8–225.0
Patient	7.5	24.7	142.7	272.0	36.0	144.7
(C) Oxygraphic analysis on fibroblasts cultivated in glucose medium
	Oxygen consumption
	Intact cells	Digitonin permeabilized cells
		Glutamate+Malate	Succinate	G3P
Control values (nmol O2/min/mg of proteins)	5.90–13.80	8.00–16.60	8.00–15.80	4.90–13.50
Patient	9.00	13.88	11.57	12.22
D Oxygraphic analysis on fibroblasts cultivated in galactose medium
	Oxygen consumption
	Intact cells	Digitonin permeabilized cells
		Glutamate+Malate	Succinate	G3P
Control values (nmol O2/min/mg of proteins)	5.58 – 17.44	8.16 – 13.45	8.60 – 10.97	5.22 – 12.91
Patient	20.71	19.28	21.32	20.11