Diagnosis of fatal infantile defects of the mitochondrial respiratory chain: age dependence and postmortem analysis of enzyme activities.
J Neurol Sci
; 134(1-2): 95-102, 1995 Dec.
Article
em En
| MEDLINE
| ID: mdl-8747850
ABSTRACT
We studied two diagnostic aspects of fatal infantile defects of the mitochondrial respiratory chain the age dependence of muscle mitochondrial enzyme activities and the reliability of diagnosis from autopsy samples. In morphologically normal quadriceps muscle samples of 46 children between the ages of 3 days and 15 years, activities of complex I plus III (NADHcytochrome c oxidoreductase) and complex II plus III (succinatecytochrome c oxidoreductase) increased 2-fold during the first three years of life, while that of complex II (succinate dehydrogenase), complex IV (cytochrome c oxidase), and citrate synthase did not show significant correlation with age. We suggest that these changes are related to age and stress the importance of strictly age-matched controls when diagnosing a mitochondrial disease of early childhood. The value of autopsy samples in diagnostic studies was evaluated by comparing mitochondrial enzyme activities in quadriceps muscle from autopsies and from surgical biopsies. In quadriceps muscle mitochondria, all the enzyme activities studied remained stable for at least 3 h after death. Using age-matched controls and autopsy samples, we diagnosed a respiratory chain enzyme deficiency in two infants, and the defects were confirmed in cultured skin fibroblasts.
Buscar no Google
Coleções:
01-internacional
Contexto em Saúde:
2_ODS3
/
6_ODS3_enfermedades_notrasmisibles
/
7_ODS3_muertes_prevenibles_nacidos_ninos
Base de dados:
MEDLINE
Assunto principal:
Mudanças Depois da Morte
/
Anormalidades Congênitas
/
Envelhecimento
/
Transporte de Elétrons
/
Mitocôndrias
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
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Child
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Child, preschool
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Humans
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Infant
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Newborn
Idioma:
En
Revista:
J Neurol Sci
Ano de publicação:
1995
Tipo de documento:
Article