Table 1.

Patient characteristics. Clinical, biochemical, and genetic details of each patient

ID	Age (year)	Gender	Blood spot		Plasma	C14:1/C2	Enzymatic activity	Genotype		Neurological examination	Cardiological examination	Other symptoms	Creatine kinase (normal <250)
			[C14:1] (normal <0.60 μmol/L)	C14:1/C2 (normal <0.020 μmol/L)	[C14:1] (normal <0.26 μmol/L)		Lymphocytes (% of controls)	Allele 1	Allele 2
1	5	M	0.70	0.058	0.60	0.220	<7	p.G441D missense	p.A490P missense	Normal (MRC 5)	Normal (no echo/ECG abnormalities)	No hepatomegaly, fatigue, sometimes myalgia	91
2	5	M	0.36	0.040	2.92	0.780	<7	p.P89HfsX28 frameshift	p.V283A missense	Normal	Normal	No hepatomegaly, no complaints	198
Sib of 2	11	F					11	p.P89HfsX28 frameshift	p.V283A missense			No complaints	n.a.
3	4	F	0.33	0.024	0.15	0.069	21	p.V283A missense	p.V283A missense	Normal	Normal	No hepatomegaly, no complaints	96
4	5	M	0.25	0.050	0.38	0.18	14	p.V283A missense	p.V283A missense	Normal	Normal	No hepatomegaly, no complaints	200
5	2	M	0.55	0.039	0.14	0.094	46	p.G441D missense	p.R615Q missense	Normal	Normal	No hepatomegaly, no complaints	120
Sib of 5	2	F					40	p.G441D missense	p.R615Q missense	Normal	Normal	No complaints	n.a.