Deficiency in complex IV of mitochondria respiratory chain
Revue Maghrebine de Pediatrie [La]. 2009; 19 (5): 253-257
em Francês
| IMEMR
| ID: emr-134319
ABSTRACT
Mitochondrial cytopathies are diseases due to a defect of mitochondrial respiratory chain and are characterized by the presence of morphological abnormalities of mitochondria. These diseases may be due to alterations of the mitochondrial or the nuclear genome. The clinical manifestations can be polymorphic as various organs may be involved. We report the case of a 2-year-old boy who has a declined development correlated with a distal renal tubular acidosis. His behavioural and motor development was normal until l2months when a regression of his motor milestones with a pyramidal syndrome was noted. The metabolic investigation and the cranial MRI revealed a Leigh syndrome. The biochemical and immunological studies on biopsied skeletal muscle and cultured skin fibroblasts showed a deficiency in the complex IV respiratory chain [cytochrome c oxidase or COX]
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Acidose Tubular Renal
/
Imageamento por Ressonância Magnética
/
Doença de Leigh
/
Complexo IV da Cadeia de Transporte de Elétrons
/
Doenças Mitocondriais
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Francês
Revista:
Rev. Maghreb. Pediatr.
Ano de publicação:
2009
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