Table 3.
Specific clinical features in mitochondrial diabetes (n = 15)
| Family member | Age at diagnosis (year) | BMI (kg/m2) | Autoimmune diabetes antibodies | Deafness | Fasting/postprandial elevated blood lactate | Encephalomyopathy | The peak height G/A ratio% | |
|---|---|---|---|---|---|---|---|---|
| 1 | II1 (P:I) | 68 | 18.4 | ND | + | ND | - | 5.9 |
| 2 | II2 | 49 | 23.4 | IAA (−)、ICA (−)、GAD (−) | + | ND | - | 14 |
| 3 | II4 | 48 | 16.8 | IAA (−)、ICA (−)、GAD (−) | + | ND | - | 14.9 |
| 4 | III1 | 18 | 18.7 | IAA (−)、ICA (−)、GAD (−) | + | - | - | 83.3 |
| 5 | I2 (P:II) | 25 | 17.4 | ND | + | ND | - | 31.6 |
| 6 | II1 | 31 | 21.2 | ND | + | + | + | 29.1 |
| 7 | II2 | 43 | 20.1 | ND | + | ND | - | 8.2 |
| 8 | II3 | 38 | 19 | IAA (−)、ICA (−)、GAD (−) | + | ND | - | 27.6 |
| 9 | I2 (P:III) | 43 | 18.4 | ND | + | ND | - | 8 |
| 10 | II1 | 17 | 18.3 | IAA (−)、ICA (−)、GAD (−) | + | ND | - | 65 |
| 11 | I2 (P:IV) | 33 | 16.7 | IAA (−)、ICA (−)、GAD (−) | + | - | - | 29 |
| 12 | II1 | 24 | 21.7 | ND | + | + | + | 27.1 |
| 13 | II1 (P:V) | 26 | 24.9 | ND | + | ND | - | 34.5 |
| 14 | II2 | 46 | 19.1 | ND | + | ND | - | 15.2 |
| 15 | III1 | 17 | 18.4 | IAA (−)、ICA (−)、GAD (−) | + | ND | - | 63.6 |
For the structure of the five- mitochondrial diabetes pedigree, see Fig. 1. P, I-V represent family I-V.;ND represents undetected;-, negative; +, positive. The peak height G/A ratio, m.3243A>G mitochondrial DNA mutation peak height G to A ratio