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Table 2 Liver manifestations in 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

Cholestasis

Hepatomegaly

Fatty liver

Fibrosis

Liver failure

Tumor

AFP (ng/mL)

Pt68EB

MPV17

+

+

+

+

+

–

NA

Pt68YB

MPV17

+

–

+

+

–

HCC

24,000

Pt292

MPV17

+

+

+

–

+

–

219,980

Pt339

MPV17

+

+

+

+

+

–

24.9

Pt936

MPV17

+

+

+

+

+

–

315,521

Pt1244

MPV17

+

+

+

+

+

–

503,320

Pt1273

MPV17

+

+

+

+

+

–

93,619

Pt1702

MPV17

+

–

+

+

+

–

NA

Pt1943

MPV17

+

+

–

–

+

–

NA

Pt2017EB

MPV17

+

+

+

+

+

multiple hepatic nodules

413

Pt2017YS

MPV17

+

–

+

–

+

multiple hepatic nodules

3078

Pt2017ES

MPV17

+

–

+

+

–

HCC

1332

Pt2170

MPV17

+

+

+

+

+

–

60,500

Pt50YS

DGUOK

+

+

–

–

+

–

NA

Pt50ES

DGUOK

–

–

–

–

+

–

NA

Pt66

DGUOK

+

–

+

+

+

–

NA

Pt74

POLG

+

+

+

+

+

–

NA

Pt94

MICOS13

+

+

+

+

+

–

NA

Pt63

ND

+

+

–

+

+

–

200,000

Pt92

ND

+

+

–

+

+

–

> 50,000

Pt148

ND

+

–

–

+

+

–

8400

Pt1156

ND

+

+

+

+

+

–

NA

Pt1589

ND

–

NA

NA

NA

–

–

NA

  1. AFP, α-fetoprotein; EB, elder brother; ES, elder sister; HCC, hepatocellular carcinoma; NA, not available; ND, not detected; YB, younger brother; YS, younger sister