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Article

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

Orphanet journal of rare diseases - 24 Jul 2020

Shimura Masaru, Kuranobu Naomi, Ogawa-Tominaga Minako, Akiyama Nana, Sugiyama Yohei, Ebihara Tomohiro, Fushimi Takuya, Ichimoto Keiko, Matsunaga Ayako, Tsuruoka Tomoko, Kishita Yoshihito, Umetsu Shuichiro, Inui Ayano, Fujisawa Tomoo, Tanikawa Ken, Ito Reiko, Fukuda Akinari, Murakami Jun, Kaji Shunsaku, Kasahara Mureo, Shiraki Kazuo, Ohtake Akira, Okazaki Yasushi, Murayama Kei

Abstract excerpt

BACKGROUND: Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in mitochondrial DNA maintenance and leads to liver failure and neurological complications during infancy. Liver transplantation (LT) remains controversial due to poor outcomes associated with extrahepatic symptoms. The purposes of this study were to clarify the current clinical and molecular features of...

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Identifiers

PMID: 32703289
DOI: 10.1186/s13023-020-01441-5
PMCID: PMC7379809

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