Table 1.
Case report: list of test values
| Test | Value | Normal range |
|---|---|---|
| Hemoglobin | >10 | 10–11.1 |
| Lactate | 1.2 | 0.7–2.1 |
| Alkaline phosphatase | 117–125 | 35–105 |
| Glut1 deficiency | 4.3 | – |
| β-Galactosidase | 201 | 130–340 |
| Arylsulfatase A | 8.0 | 3.5–15 |
| Hexosaminidase A + B | 2225 | 1200–3500 |
| Hexosaminase A | 211 | 140–410 |
| Galactocerebrosidase | 1.01 | 0.5–3.4 |
| α-Fucosidase | 59 | 20–110 |
| Palmitoyl-protein thioesterase | 22 | 15–90 |
| Hexosaminidase A + B (plasma) | 596 | 400–1800 |
| Chitotriosidase I (plasma) | 13 | 0–115 |
| Cerotic acid | 98 | 40–115 |
| Complex I | 63 | 25–164 |
| Complex II | 130 | 39–171 |
| Complex II + III | 134 | 33–216 |
| Complex III | 467 | 117–794 |
| Complex IV | 1225 | 286–1852 |
| Citrate synthase (CS) | 351 | 127–477 |
| Complex I/CS ratio | 0.18 | 0.19–0.54 |
| Complex II/CS ratio | 0.37 | 0.24–0.50 |
| Complex II + III/CS ratio | 0.38 | 0.19–0.72 |
| Complex III/CS ratio | 1.33 | 0.82–2.14 |
| Complex IV/CS ratio | 3.5 | 2.2–5.0 |
| Complex I/II ratio | 0.48 | 0.45–1.33 |
| Complex II + III/II ratio | 1.03 | 0.48–1.71 |
| Complex III/II ratio | 3.6 | 1.6–5.8 |
| Complex IV/II ratio | 9.4 | 7.3–13.6 |
| PCR analysis of whole mitochondria gene on DNA isolated from muscle biopsy is normal | ||
| MELAS (3243A G) | Not detected | – |
| MERRF (8834A G) | Not detected | – |
| NARP (993T G) | Not detected | – |