Table 3.

Results of brain imaging, liver morphology, mitochondrial respiratory chain functional study, mitochondrial DNA quantification and DGUOK gene studies

	P1	P2	P3	Total
Neuroimaging
Age (months)	4	1	0.75	(0.75–4)
Brain MRI	N	N	N	3/3
Brain MRS	Lactate	Lactate	Lactate	3/3
Liver morphology
Age (months)	6	2	4.5	(2–6)
Specimen	NE	NE	OLT	−
Morphology:				−
Microvesicular seatosis	+	++	−	2/3
Hepatocyte swelling	+	+	+	3/3
Syncytial cells	−	+	−	1/3
Cholestasis	+++	+++	+++	3/3
Cirrhosis/Fibrosis	++	−	++	2/3
Iron deposits	+	+	−	2/3
Mitochondrial DNA quantification (% of control)
Liver	3.6	8.6	−	2/3
Muscle	42	60.9	−	2/3
Lymphocytes	−	25.9	7.1	2/3
DGUOK gene studies
	c.677A>G (homozygous)	c.677A>G (homozygous)	c.749T>C (homozygous)	3/3

MRS, magnetic resonance spectroscopy; N, normal; NE, necropsy; OLT, orthotopic liver transplantation; P1, patient 1; P2, patient 2; P3, patient 3.

−, absent; +, mild; ++, moderate; +++, severe.

Abnormal values are in bold.