Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis

Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency

“…Cirrhosis with portal hypertension was never reported, although significant liver fibrosis was a constant feature of liver morphological analysis. The pattern of neurological anomalies associated to DGUOK defect is also unusual associating hypotonia, both early and progressive, nystagmus characterized by atypical multidirectional or rotating eye movements [4,7,10,11] and major psychomotor delay, but without seizures or alterations of electroencephalogram and brain imaging in contrast to abnormalities reported in Alpers' syndrome. Despite the ubiquitous nature of DGUOK expression, the rest of the organs does not show any significant alteration with the exception of kidney, which may present some degree of tubulopathy (Patient 3.2 and Ref.…”

“…Cytolysis was constant but often moderate and fluctuating from day to day. Liver failure was progressive, with frequently ascites, oedema and haemorrhage due to severe decrease of clotting factors [6,7,10,11]. Cirrhosis with portal hypertension was never reported, although significant liver fibrosis was a constant feature of liver morphological analysis.…”

“…MDS due to mutations in DGUOK is a very rare disorder with, according to our knowledge, only 26 reported patients from eight different pedigrees [4,[6][7][8][9][10][11]. Although most affected individuals presented shortly after birth with progressive liver failure and neurological abnormalities, the specific clinical, biological and liver morphological alterations associated with DGUOK deficiency have still to be delineated.…”

“…[4,[6][7][8][9][10][11]), and from all the 32 patients (Total), respectively. The total for the age at onset and death is expressed as median [95% Confidence Interval].…”

Correlation of Oxidative Stress Biomarkers and Peritoneal Urea Clearance with Mitochondrial DNA Copy Number in Continuous Ambulatory Peritoneal Dialysis Patients

“…It has been shown that the number of mitochondria varies according to the energy demand of tissue cells [8]. Many diseases whose pathogenesis is associated with oxidative phosphorylation have been reported to cause alterations in mitochondrial DNA (mtDNA) copy number or mitochondrial mass [9,10,11]. Mitochondria are also a major source of ROS and are thus highly susceptible to oxidative damage.…”