title: Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia.
abstract: 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 mitochondrial 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 mitochondrial fatty acid oxidation defect. Syndromes involving depletion of mtDNA can be diagnosed only when the activity of the respiratory chain enzymes and the content of mtDNA are investigated in the most affected tissues.
authors.affiliation: Department of Pediatrics, University Hospital Leiden, The Netherlands.
authors.forename: P D
authors.initials: PD
authors.lastname: Maaswinkel-Mooij
authors.forename: C
authors.initials: C
authors.lastname: Van den Bogert
authors.forename: H R
authors.initials: HR
authors.lastname: Scholte
authors.forename: W
authors.initials: W
authors.lastname: Onkenhout
authors.forename: P
authors.initials: P
authors.lastname: Brederoo
authors.forename: B J
authors.initials: BJ
authors.lastname: Poorthuis
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications*; D004272:DNA, Mitochondrial / Q000302:isolation & purification*; D004579:Electron Transport; D017809:Fatal Outcome; D006801:Humans; D007003:Hypoglycemia / Q000150:complications*; D007223:Infant; D017093:Liver Failure / Q000201:enzymology / Q000209:etiology / Q000378:metabolism* / Q000473:pathology; D008297:Male; D008930:Mitochondria, Liver / Q000201:enzymology / Q000235:genetics; D010088:Oxidoreductases / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D010088:Oxidoreductases