ISSN:
1432-1076
Keywords:
Neonate
;
Cardiomyopathy
;
Cataract
;
Mitochondrial myopathy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Three patients suffering from the neonatal form of a syndrome characterized by congenital cataract, hypertrophic cardiomyopathy, and mitochondrial myopathy are described. The patients died at 7, 10 and 18 days, respectively from cardiorespiratory failure. Mitochondrial abnormalities were observed in the heart and skeletal muscle. Despite the presence of a severe lactic acidaemia pointing to a disturbed pyruvate oxidation rate in vivo, a normal pyruvate oxidation rate was demonstrated in skeletal muscle homogenates. The activities of several enzymes of the mitochondrial respiratory chain appeared to be normal, indicating an intact respiratory chain. A myoglobinopenia could be excluded. The activities of some mitochondrial enzymes and the concentration of myoglobin increase with age.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00441527
