Mitochondrial respiratory chain disorders (MRCDs) are rare conditions with various clinical manifestations that depend on the genetic type, with subsequent severity of the liver disease. Clinical presentations include acute liver failure or chronic liver failure with liver cirrhosis, which are cruelly progressive and fatal. We report six cases of LT for acute liver failure diagnosed pathogenic MPV17 variants. Three out of six cases were siblings with the MPV17-mutation (c.148C>T, p.R50W / c.149G>A; p.R50Q), also known as the childhood form of Navajo neurohepatopathy. Those three patients underwent LT for liver cirrhosis at the ages of 5, 7, and 7 years, respectively. All three recipients are currently doing well without any neurological sequelae. In contrast, the three additional patients that presented with an acute liver failure and subsequent diagnosis of mutation in MPV17 (homozygous c.451dupC: p.L151PfsX39; homozygous c.451dupC : p.L151PfsX39; c.451dupC : p.L151PfsX39 / c.71-2_79del11ins4), underwent LT at the ages of 4 months, 11 months, and 1 year, respectively. All three recipients died from pulmonary hypertension following successful LT. Interestingly, the intraoperative macroscopic findings of the native liver at the time of LT revealed distinctive, microgranular nodules and liver fibrosis with severe steatosis (“avocado-like” liver). LT might be contraindicated in MPV17 patients with c.451dupC mutation due to the extremely poor prognosis caused by fatal progressive pulmonary hypertension. The identification of the typical macroscopic finding (“avocado-like”), seen in such pediatric transplant candidates with acute liver failure, might be helpful to provide an early diagnosis of MPV17-related c.451dupC mutation.
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