Table 1.

Summary of mitochondrial causes of liver failure with respiratory chain deficiency

Type of mitochondrial dysfunction	Name	Genes involved	Respiratory chain defect
Disorders of mtDNA maintenance	Hepatocerebral mitochondrial disease	DGUOK, MPV17, POLG, SUCLG1, C10ORF2	Combined RC defect
	Pearson syndrome	Single mtDNA deletion	Combined RC defect
	Alpers-Huttenlocher syndrome	POLG	Combined RC defect or normal
Disorders of mitochondrial protein synthesis	Reversible infantile mitochondrial hepatopathy	TRMU	Combined RC defect
	Mitochondrial tRNA synthetase defects	EARS2, FARS2
	Nuclear translation initiation-elongation factors	GFM1, TSFM	Combined RC defect
Defects of OXPHOS complex assembly	Complex III assembly	BCS1L	Complex III
	Complex IV assembly	SCO1	Complex IV