Table 1.

Summary of clinical, pathological, biochemical and molecular analyses

	Patient 1	Patient 2	Patient 3	Patient 4
Age of onset (years)	11	12	19	10
Sex	Female	Female	Male	Female
Episodes of metabolic crisis	None	None	None	One
Episodes of severe weakness	Two, together with body weight loss	Two, together with body weight loss and frequent diarrhea	Three, together with body weight loss and frequent abdominal pain and diarrhea	Two
Episodes of other symptoms	Pancreatitis, six times	None	None	None
Symptoms between episodes	Exercise intolerance Minimal weakness	Exercise intolerance	Mild weakness	Mild weakness
Muscle histology	Lipid accumulation	ND	Lipid accumulation	Lipid accumulation
Serum acylcarnitine (*high)	C6*1.5, C8*1.2, C10:1*3.4, C10*10.5, C14:2*2.7	C8*4.2, C10*2.4, C14:2*1.3	C6*1.1, C8*8, C10:1*1.5, C10*5, C14:2*5.2	C8*2, C10*2.8, C14: 1*3.6, C16:1*3
Urine organic acid profile	Elevation of glutaric, ethylmaloric, suberic, 3-methyladipic, 2- hydroxylglutaric acids	Elevation of glutaric, ethylmaloric, suberic, 2-hydroxylglutaric, 3-methylglutaconic, lactic acids	Elevation of glutaric, methylmalonic, ethylmalonic, 3-methylglutaconic, pyruvic acids	Elevation of glutaric, ethylmalonic, suberic, 2-hydroxyglutaric acids
CoQ10 level (normal 32.1 ± 6.8 μg/g-tissue)	ND	ND	Normal	Normal
Respiratory chain activity:	ND	ND
Complex I + III (normal 1.02 ± 0.38)			0.71	0.71
Complex IV (normal 2.8 ± 0.52)			2.35	2.38
Citrate synthase (normal 9.88 ± 2.55)			9.85	9.91
Riboflavin responsiveness	Yes	Yes	Yes	Uncertain
Mutation	p.A84T/p.R175L	p.A84T/p.R175L	p.A84T/p.A84T	p.A84T/ p.L127H

The enzymatic activities of respiratory chain are normalized to citrate synthase; 1 unit means 1 μmol/min.

The number of controls for acylcarnitine and organic acid analyses is 100. ND: not done.