TABLE 3.

Results of tissue studies and radiology undertaken in infants with and without genetically proven mitochondrial liver disease

	Genetically proven MLD (n = 5)	Other causes of ALF (n = 34)
Liver mtDNA depletion	2/2	8/15
Muscle mtDNA depletion	2/4	1/7
Abnormal muscle respiratory chain enzymes	2/5	0/4
Muscle steatosis	4/5	1/7
Hepatic steatosis	3/3	5/18
MRS lactate peak	3/5	2/5

ALF = acute liver failure; MLD = mitochondrial liver disease; MRS = magnetic resonance spectroscopy; mtDNA = mitochondrial DNA.