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Table 1 Clinical characteristics of 23 hepatocerebral MTDPS patients

From: Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

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
  1. C, complex; EB, elder brother; ES, elder sister; NA, not available; ND, not detected; YB, younger brother; YS, younger sister
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172

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