Table 3.
Clinical summary of MADD patients.
| Patient | Age | Gender | Clinical feature | Serum CK (IU/L) |
CoQ10 level (μg/g muscle) |
Treatment | Clinical course |
|---|---|---|---|---|---|---|---|
| 4 | 5 mo | F | Muscle weakness, hepatomegaly | 55 | NA | NA | NA |
| 5 | 6 mo | M | Muscle weakness, hepatomegaly | 2000-4000 | NA | L-carnitine riboflavin | Normal development after treatment |
| 6 | 11 mo | M | Vomiting, hypertrophic cardiomyopathy | 128-618 | 24.1 | L-carnitine | Died at 2 years of age due to pulmonary alveolar bleeding |
| 7 | 13 y 4 mo | F | Progressive muscle weakness | 127 | 32.3 | L-carnitine riboflavin | No muscle weakness at present |
NA, not available. Normal range: CK, 57-197 IU/L; CoQ10, 32.1 ± 6.8 (mean ± standard deviation).