Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia

An infant with feeding difficulties, hypotonia, lactic acidemia, and severe hypoketotic hypoglycemia died at the age of 7 months of liver disease. Electron microscopy revealed abnormal mitochondria. Biochemical studies of mitochondria) enzymes in liver showed a decreased activity of complexes I, III...

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Published inThe Journal of pediatrics Vol. 128; no. 5; pp. 679 - 683
Main Authors Maaswinkel-Mooij, P.D., Van den Bogert, C., Scholte, H.R., Onkenhout, W., Brederoo, P., Poorthuis, B.J.H.M.
Format Journal Article
LanguageEnglish
Published New York, NY Mosby, Inc 01.05.1996
Elsevier
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Summary:An infant with feeding difficulties, hypotonia, lactic acidemia, and severe hypoketotic hypoglycemia died at the age of 7 months of liver disease. Electron microscopy revealed abnormal mitochondria. Biochemical studies of mitochondria) enzymes in liver showed a decreased activity of complexes I, III, and IV. Mitochondrial DNA (mtDNA) content was reduced in liver (7% of the mean value in control subjects) and in muscle (50%). In kidney, brain, and heart, the mtDNA content was normal. The liver-specific mtDNA depletion syndrome in this patient manifested itself with features of both a respiratory chain defect and a mitochondria) fatty acid oxidation defect. Syndromes involving depletion of mtDNA can be diagnosed only when both the activity of the respiratory chain enzymes and the content of mtDNA are investigated in the most affected tissues.
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ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(96)80134-X