Table 1 Clinical characteristics of 23 hepatocerebral MTDPS patients
ID | Gene | Sex | Gestational age | Birth weight (SD) | Age at onset | Initial manifestations | Affected complex in Liver | %mtDNA in Liver |
|---|---|---|---|---|---|---|---|---|
Pt68EB | MPV17 | M | 37 w 0 d | 3060 g (1.0 SD) | 3 m | failure to thrive, hypotonia, jaundice | CI + III + IV | 7.8 |
Pt68YB | MPV17 | M | 40 w 0 d | 3260 g (0.1 SD) | 8 m | failure to thrive, jaundice | CI + III + IV | 6.6 |
Pt292 | MPV17 | F | 40 w 5 d | 3428 g (1.0 SD) | 1 m | failure to thrive, vomiting | CI + III | 9.8 |
Pt339 | MPV17 | F | NA | NA | 8 m | failure to thrive | CI + III | 20.5 |
Pt936 | MPV17 | M | 38 w 0 d | 3240 g (1.3 SD) | 1 m | failure to thrive | CI + III + IV | 8.0 |
Pt1244 | MPV17 | M | 40 w 0 d | 2909 g (−0.9 SD) | 1 m | failure to thrive | CI + III + IV | 1.2 |
Pt1273 | MPV17 | F | 39 w 0 d | 3010 g (0.1 SD) | 1 m | failure to thrive, vomiting | CI + III + IV | 3.4 |
Pt1702 | MPV17 | M | NA | NA | neonate | failure to thrive, vomiting | NA | NA |
Pt1943 | MPV17 | M | 37 w 5 d | 2692 g (−0.5 SD) | neonate | tachypnea, jaundice | CI + III | 0.5 |
Pt2017EB | MPV17 | M | 38 w 0 d | 2950 g (0.5 SD) | 7 m | liver failure | CI + III | 0.7 |
Pt2017YS | MPV17 | F | 37 w 6 d | 2830 g (0.1 SD) | 1 y | vomiting, lethargy | CI + IV | 7.1 |
Pt2017ES | MPV17 | F | 38 w 0 d | 2728 g (0.1 SD) | 4 y 5 m | vomiting, lethargy | CI + III + IV | 0.6 |
Pt2170 | MPV17 | F | 36 w 2 d | 2428 g (0 SD) | 7 m | failure to thrive, cholestasis, liver dysfunction | CI + III + IV | 15.3 |
Pt50YS | DGUOK | F | 40 w 2 d | 2750 g (−1.2 SD) | neonate | tachypnea, hypothermia, hypoglycemia | CI + III + IV | 6.0 |
Pt50ES | DGUOK | F | 40 w 0 d | 2510 g (−1.5 SD) | 3 m | failure to thrive, incomplete head control | CI + III + IV | 3.0 |
Pt66 | DGUOK | F | 37 w 3 d | 1688 g (−3.2 SD) | neonate | feeding difficulty | CI + III + IV | 2.3 |
Pt74 | POLG | F | 40 w 0 d | normal | 4 m | failure to thrive, lethargy, hypotonia, vomiting | CI + III + IV | 3.3 |
Pt94 | MICOS13 | F | 40 w 3 d | 2780 g (−0.8 SD) | 3 m | breath holding | CI | 11.5 |
Pt63 | ND | M | 37 w 0 d | 1884 g (−2.5 SD) | 2 m | failure to thrive, vomiting | CI | 23.7 |
Pt92 | ND | M | 40 w 0 d | 3120 g (−0.3 SD) | 1 m | failure to thrive, jaundice | CI + III | 18.4 |
Pt148 | ND | F | 38 w 4 d | 2254 g (−1.7 SD) | neonate | vomiting | CI | 31.7 |
Pt1156 | ND | M | 37 w 3 d | 1992 g (−2.1 SD) | neonate | hypoglycemia, lactic acidosis | CI + IV | 6.3 |
Pt1589 | ND | M | 23 w 5 d | 624 g (0 SD) | 4 y 3 m | elevated transaminases | CI + III + IV | 10.6 |