Table 1.
Blood acylarnitine, urine organic acids, and muscle enzymes in the four MADD patients.
| No. | Sex | Onset | Blood acylcarnitine spectrum (μmol/L) | Urine organic acids spectrum | CK (U/L) | LDH (U/L) | AST (U/L) | Genotype |
|---|---|---|---|---|---|---|---|---|
| 1 | F | 7 yo | ↓: C2 (6.16), C3 (0.47) | ↑: Ethylmalonic acid (8.48), decanedioic acid (54.59) | 193 | 234 | 34 | c.524G>A (p.R175H), c.229G>A (p.G77S) |
| ↑: C4 (1.18), C5 (0.56), C6 (1.06), C8 (1.47), C10 (1.86), C10:1 (0.55), C12 (0.60), C14:1 (0.57) | ||||||||
| 2 | F | 10 do | ↑: C4 (1.03), C5 (0.58), C5DC (0.33), C6 (0.96), C8 (1.50), C8DC (0.23), C10 (2.11), C10:1 (0.34), C12 (2.43), C12:1 (0.45), C14 (2.49), C14:1 (1.53), C16 (6.39), C16:1 (1.47) | ↑: 3-Hydroxyglutaric acid (29.22) | 235 | 331 | 82 | c.524G>A (p.R175H), c.229G>A (p.G77S) |
| 3 | M | 27 yo | ↓: C0(8.38) | ↑: Lactate-2 (34.29), Glycolic acid-2 (14.44), Oxalic acid-2 (4.22), 2-Hydroxybutyric acid-2 (4.58), 3-Hydroxypropionic acid-2 (4.43), Pyruvate-OX-2 (58.29), 2-Hydroxyisovalerate-2 (17.98) | 1318 | 1024 | 557 | c.524G>A (p.R175H), c.1450T>C (p.W484R) |
| ↑: C6 (0.41), C8 (0.63), C10 (1.06) | ||||||||
| 4 | M | 30 do | ↓: C0 (5.37), C3 (0.42) | ↑: Ethylmalonic acid (10.33), 3-Hydroxyglutaric acid (7.03), 4-Hydroxyphenyllactate-2 (28.34) | 976 | 853 | 323 | c.1157G>A (p.G286D), c.1450T>C (p.W484R) |
| ↑: C4 (1.16), C8DC (0.11), C12(0.51), C14 (1.13), C14:1 (1.18), C16 (4.16), C14:1/ C8:1 (32.10), C16/C3 (9.92) | Hypervanillic acid-2 (80.4), Vanillic acid-2 (25.45), Palmitic acid-1 (131.72), Glycerate-3 (14.3), 4-hydroxyphenylacetic acid (303.27) |
↑ above normal level; ↓ below normal level; yo: years old; do: days old.
Upper limit of normal: CK 200 U/L, LDH 245 U/L, and AST 40 U/L.