Fatal hepatic failure with lactic acidaemia, fanconi syndrome and defective activity of succinate: Cytochromec reductase

Long-term Follow-up of Neonatal Mitochondrial Cytopathies: A Study of 57 Patients

“…[17][18][19] CI, CIII, and CIV as well as mitochondrial DNA-depletion syndrome are related to neonatal liver failure presenting with severe hyperlactacidemia. [17][18][19][20][21][22][23][24][25] In our series, CI deficiency and mitochondrial DNA depletion were the most frequent deficiencies.…”

Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: A study of 31 patients

“…14-17 Acute neonatal liver disease manifesting as hepatic failure has been reported primarily in association with mitochondrial DNA depletion, 18-20 but also with CIV deficiency 13,20,21 and CI, CIII, and generalized deficiencies. 14,21,22 The very low incidence of mitochondrial DNA depletion could in part explain the absence of initial hepatic symptoms in our patients. In our series, the type of complex deficiency did not depend on the presence of hepatic dysfunction.…”

“…27,28 Cytochrome oxidase deficiency has been related to fatal congenital lactic acidosis and hepatopathy in early childhood. 14,21,22,29 It is important to emphasize that in 24 of our patients, the enzymatic defect was found exclusively in the liver (with normal activities in muscle and fibroblasts), and of these 24 patients, 9 had no signs of hepatic dysfunction. This finding reflects the importance of liver biopsy in the diagnostic workup of mitochondrial disorders.…”

Severe complex I deficiency in a case of neonatal‐onset lactic acidosis and fatal liver failure

“…In contrast to frequent observations of brain, heart, kidney and muscle involvement (11)(12)(13), only a few cases with liver disease as the major clinical and biochemical feature have been reported so far (3)(4)(5)(6).…”