[Respiratory chain diseases in infancy. Clinical presentation and diagnosis].
Nineteen children with defects of the mitochondrial respiratory chain are described. First symptoms appeared during the first two years of their lives. Four types of clinical pictures were identified: 1/neonatal hypotonia. 2/cardiomyopathy. 3/progressive neurological deterioration. 4/multisystem disease. A study of pyruvate and fatty acids metabolism and a skeletal muscle biopsy were performed in all cases. Elevation of beta-hydroxybutyrate/acetoacetate and lactate were the most frequent biochemical abnormalities. Muscular biopsy in light microscopy showed in most cases abnormal lipid storage.
García Silva
M T
MT
Hôspital Necker Enfants Malades, Service de Génétique Médicale, París.
Bonnefont
J P
JP
Rotig
A
A
Romero
N
N
Vassault
A
A
Colonna
M
M
Coude
M
M
Rabier
D
D
Munnich
A
A
Fardeau
M
M
D001706:Biopsy; D001928:Brain Diseases, Metabolic / Q000209:etiology*; D009202:Cardiomyopathies / Q000209:etiology*; D002675:Child, Preschool; D004579:Electron Transport; D003576:Electron Transport Complex IV / Q000032:analysis; D004734:Energy Metabolism; D005260:Female; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000209:etiology*; D008297:Male; D008928:Mitochondria / Q000378:metabolism / Q000473:pathology*; D009102:Multiple Organ Failure / Q000209:etiology; D009123:Muscle Hypotonia / Q000209:etiology*; D009132:Muscles / Q000473:pathology
D003576:Electron Transport Complex IV
Las enfermedades de la cadena respiratoria en la infancia. Presentación clínica y diagnóstico.