title: Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.
abstract: Deficiency of mitochondrial DNA polymerase gamma activity was found in a patient with mtDNA depletion and Alpers' syndrome. Metabolic evaluation revealed fasting hypoglycemia, dicarboxylic aciduria, and reduced activity of the electron transport chain in skeletal muscle. The patient died in early childhood of fulminant hepatic failure, refractory epilepsy, lactic acidemia, and coma. mtDNA content was 30% of normal in skeletal muscle and 25% in the liver. The activity of mtDNA polymerase gamma was undetectable.
authors.affiliation: Mitochondrial and Metabolic Disease Center, Department of Medicine, University of California-San Diego, La Jolla, USA.
authors.forename: R K
authors.initials: RK
authors.lastname: Naviaux
authors.forename: W L
authors.initials: WL
authors.lastname: Nyhan
authors.forename: B A
authors.initials: BA
authors.lastname: Barshop
authors.forename: J
authors.initials: J
authors.lastname: Poulton
authors.forename: D
authors.initials: D
authors.lastname: Markusic
authors.forename: N C
authors.initials: NC
authors.lastname: Karpinski
authors.forename: R H
authors.initials: RH
authors.lastname: Haas
mesh_terms: D001259:Ataxia / Q000209:etiology; D001706:Biopsy; D002525:Cerebellar Cortex / Q000201:enzymology / Q000473:pathology; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000032:analysis / Q000378:metabolism*; D004259:DNA-Directed DNA Polymerase / Q000172:deficiency* / Q000378:metabolism; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications / Q000201:enzymology* / Q000235:genetics*; D004569:Electroencephalography; D004579:Electron Transport; D004827:Epilepsy / Q000175:diagnosis / Q000209:etiology; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D017093:Liver Failure / Q000209:etiology / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008928:Mitochondria / Q000201:enzymology / Q000235:genetics; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology
chemical_list: D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase