Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.
Ann Neurol
; 45(1): 54-8, 1999 Jan.
Article
en 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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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
/
Esclerosis Cerebral Difusa de Schilder
/
ADN Polimerasa Dirigida por ADN
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Ann Neurol
Año:
1999
Tipo del documento:
Article
País de afiliación:
Estados Unidos