Table 1.

Follow-upTMS spectra of serum acylcarnitines in patient 1

Follow-up	Before diagnosis	CoQ10 1000 mg/day	CoQ10 + low-protein, low-fat diet	CoQ10 + riboflavin without l-carnitine
Clinical symptoms	Subacute muscle Weakness, fatigue	Marked improvement	Weakness, ↑ liver Enzymes, re-biopsy	Complete recovery
Serum CK U/l normal< 180	Up to 2000	Normal	2446	Normal
C0 x-fold lower limit	Normal	Normal	0.5	0.2
C4 x-fold upper limit	3.8	Normal	1.9	Normal
C5 x-fold upper limit	16.5	1.4	3.6	Normal
C8 x-fold upper limit	5.0	6.5	2.8	Normal
C10 x-fold upper limit	5.8	5.8	3.6	Normal
C14 : 1x-fold upper limit	8.9	1.8	6.4	Normal

Note: The combined elevation of short (C4, C5), medium (C8, C10) and long-chain (C14 : 1) acylcarnitines is characteristic of GA-II. Free carnitine (C0) was repeatedly diminished reflecting excretion of acylcarnitines in the urine. Reference ranges for free carnitine (C0) and acylcarnitines (μmol/l): C0 30–63; C4<0.6; C5<0.2; C8<0.3; C10<0.5; C14:1<0.3).