Table 2.
Biochemical marker concentrations of 4 CPT-IA deficient patients
| Case | 1 | 1 | 1 | 1 | 1 | 2 | 3 | 3 | 4 |
|---|---|---|---|---|---|---|---|---|---|
| Gender | m | v | m | v | |||||
| Age (years, days) | 1y, 206d | 1y, 266d | 1y, 268d | 1y, 271d | 1y, 278d | 6y, 22d | 16y, 273d | 19y, 21d | 13y, 53d |
| Plasma (μmol/L) | |||||||||
| C0 | 55.6 | 51.6 | 33.5 | 15.9 | 49.1 | 48.2 | 34.7 | 52.4 | 31.6 |
| C16:0-ac | 0.01 | 0.01 | 0.01 | 0.01 | 0.01 | 0.01 | 0.04 | 0.02 | 0.01 |
| C16:1-ac | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.01 | 0.01 | 0.01 | 0.00 |
| C18:0-ac | 0.01 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.01 | 0.00 | 0.00 |
| C18:1-ac | 0.01 | 0.00 | 0.00 | 0.01 | 0.01 | 0.02 | 0.02 | 0.02 | 0.02 |
| C18:2-ac | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.01 | 0.01 | 0.01 | 0.02 |
| Σlc-ac | 0.04 | 0.01 | 0.01 | 0.02 | 0.02 | 0.05 | 0.09 | 0.06 | 0.05 |
| C0/(C16:0-ac+C18:0-ac) | 3,087 | 5,160 | 3,350 | 1,590 | 4,910 | 4,818 | 694 | 2,618 | 3,160 |
| C0/(Σlc-ac) | 1,592 | 5,160 | 3,350 | 795 | 2,455 | 964 | 385 | 873 | 632 |
| Blood spot (μmol/L) | |||||||||
| C0 | >100 | 197 | 270 | 228 | |||||
| C16:0-ac | 0.00 | 0.10 | 0.10 | ||||||
| C16:1-ac | 0.00 | 0.00 | 0.00 | ||||||
| C18:0-ac | 0.00 | 0.00 | 0.00 | ||||||
| C18:1-ac | 0.00 | 0.00 | 0.00 | ||||||
| C18:2-ac | 0.00 | 0.10 | 0.00 | ||||||
| C0/(C16:0-ac+C18:0-ac) | >5,000 | 1,350 | 2,280 | ||||||
| C0/(Σlc-ac) | >5,000 | 1,350 | 2,280 | ||||||
| Enzyme Activity (nmol min−1 mg−1 protein)a | 0.08 | 0.08 | 0.15 | 0.15 | |||||
| DNA mutations | c.1241C>T | c.1318G>A | c.1318G>A | c.1318G>A | |||||
| (A414V) | (A440T) | (A440T) | (A440T) | ||||||
This table shows concentrations of C0, individual long-chain acylcarnitines (lc-ac), the sum of lc-ac (∑lc-ac), and ratios for 9 samples of 4 CPT-IA deficient patients in plasma and blood spots together with lymphocyte CPT-IA enzyme activities and results of DNA mutation analysis. Two plasma samples of case 1 had non-detectable concentrations of C18:1-ac. In Fig. 1, these samples were presented at a C18:1-ac concentration of 0.005 μmol/L. The blood spot C0 concentration of case 1 was obtained from the Dutch neonatal screening program (see text). Patients were homozygous for mentioned DNA mutations
aReference values lymphocyte CPT-IA activity: 0.2–0.8 nmol min−1 mg−1 protein