Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.
Ann Neurol
; 45(1): 54-8, 1999 Jan.
Article
em En
| MEDLINE
| ID: mdl-9894877
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Esclerose Cerebral Difusa de Schilder
/
DNA Polimerase Dirigida por DNA
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Estados Unidos