Liver transplantation in mitochondrial respiratory chain disorders

Sokal, EM; Sokol, Ronald J.; Cormier,; Lacaille, Florence; McKiernan, Patrick; Spronsen, van FrancJan; Bernard, Olivier; Saudubray, J. M.

doi:10.1007/pl00014328

Cited by 77 publications

(61 citation statements)

References 9 publications

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“…15,16 A poor post-transplant prognosis has been reported when MRCD involves extra-hepatic organs. 15 At 4 and 2 years after OLT, neither of our patients have extra-hepatic signs of their mitochondrial disease.…”

Section: Discussionmentioning

confidence: 99%

Risk of hepatocellular carcinoma in liver mitochondrial respiratory chain disorders

Scheers

Bachy

Stéphenne

et al. 2005

The Journal of Pediatrics

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Section: Discussionmentioning

confidence: 99%

Risk of hepatocellular carcinoma in liver mitochondrial respiratory chain disorders

Scheers

Bachy

Stéphenne

et al. 2005

The Journal of Pediatrics

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“…1 There has been extensive discussion in the literature about the role of liver transplantation in mitochondrial disorders and more recently in the mtDNA depletion syndromes in particular. [2][3][4][5][6][7][8] These debates have often focused on the ethical problems surrounding resource allocation to children who will become significantly neurologically impaired or may exhibit significant multisystemic involvement. However, there have been no systematic reviews evaluating predictors of survival or the long-term outcome of liver transplantation for liver failure caused by mtDNA depletion.…”

mentioning

confidence: 99%

Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency

et al. 2008

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Deoxyguanosine kinase (DGUOK) deficiency is the commonest type of mitochondrial DNA depletion associated with a hepatocerebral phenotype. In this article, we evaluate predictors of survival and therapeutic options in patients with DGUOK deficiency. A systematic search of MEDLINE, LILAC, and SCIELO was carried out to identify peer-reviewed clinical trials, randomized controlled trials, meta-analyses, and other studies with clinical pertinence. DGUOK deficiency was searched with the terms dGK, DGUOK, mitochondrial DNA depletion, mtDNA, and hepatocerebral. Bibliographies of identified articles were reviewed for additional references. Thirteen identified studies met the inclusion criteria and were used in this study. The analysis revealed that DGUOK deficiency is associated with a variable clinical phenotype. Long-term survival is best predicted by the absence of profound hypotonia, significant psychomotor retardation, or nystagmus. In the presence of these features, there is increased mortality, and liver transplantation does not confer increased survival. In summary, liver transplantation appears to be futile in the presence of specific neurological signs or symptoms in patients affected with DGUOK deficiency. Conversely, in the absence of these neurological features, liver transplantation may be considered a potential treatment.

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“…Hypoglycemia is a symptom frequently encountered in patients with respiratory chain defect but usually associated with liver failure (13)(14)(15)(16). Conversely, impairment of glucose homeostasis, despite normal liver function, has been observed in few cases of respiratory chain defect, but its mechanism remains poorly understood so far (1,2).…”

Section: Discussionmentioning

confidence: 99%

Respiratory Chain Defects May Present Only with Hypoglycemia

Mochel

Slama

Touati

et al. 2005

The Journal of Clinical Endocrinology & Metabolism

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Hypoglycemia occasionally results from oxidative phosphorylation deficiency, associated with liver failure. Conversely, in some cases of respiratory chain defect, the impairment in glucose metabolism occurs with normal hepatic function. The mechanism for this hypoglycemia remains poorly understood. We report here three unrelated children with hypoglycemia as the presenting symptom associated with oxidative phosphorylation deficiency but without liver dysfunction. Two patients had, respectively, complex III and complex IV deficiency and presented with long fast hypoglycemia. During a fasting test, the first patient showed evidence for impaired gluconeogenesis (progressive increase of plasma lactate and no decrease of alanine levels), whereas the second patient appeared to have impaired fatty acid oxidation (hypoketotic hypoglycemia with increased levels of non esterified fatty acids). The third patient presented with both long and short fast hypoglycemia related to complex IV deficiency. The mechanism of hypoglycemia for this patient may have been partly related to GH insufficiency, whereas impaired glycogen metabolism possibly accounted for short fast hypoglycemia. We suggest that hypoglycemia can be the presenting symptom for respiratory chain defects, through the possible reduction in cofactors resulting from oxidative phosphorylation deficiency, and that respiratory chain defects should therefore be considered in the differential diagnosis of hypoglycemia.

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Liver transplantation in mitochondrial respiratory chain disorders

Abstract: Liver transplantation is feasible in hepatic respiratory chain disorders, but extra-hepatic disease should be ruled out before transplantation. Extra-hepatic manifestations may, however, appear and cause patient death despite successful transplantation.

Cited by 77 publications

References 9 publications

Risk of hepatocellular carcinoma in liver mitochondrial respiratory chain disorders

Risk of hepatocellular carcinoma in liver mitochondrial respiratory chain disorders

Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency

Respiratory Chain Defects May Present Only with Hypoglycemia

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