Fatal neonatal liver failure and mitochondrial cytopathy: an observation with antenatal ascites.

Mitochondrial cytopathies are multisystemic diseases of extremely variable expression caused by a deficiency in oxidative phosphorylation. Only five cases of neonatal liver failure in the context of mitochondrial cytopathy have been reported, with incomplete morphological data of the liver in three. In the case presented here, ascites had been diagnosed prenatally and liver failure was particularly severe (factor V less than 15% with fatal coma the fourth day).

Mitochondrial myopathy studies on permeabilized muscle fibers.

Respiratory parameters of skeletal muscle were determined in permeabilized muscle fibers by adapting a technique described by Veksler et al. for cardiac fibers (Biochim Biophys Acta, 892:191-196, 1987). This method consists of the permeabilization of muscle fibers by saponin by allowing respiratory substrates and inhibitors to reach the mitochondria.