Succinic acidemia: A new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity

Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: A distinct late onset mitochondrial disorder

“…Associated persistent lactic acidosis with a redox shift, despite normal oxygenation and perfusion, provide a strong clinical argument for a respiratory chain disorder [Trijbels et al, 1988[Trijbels et al, , 1993Robinson, 19891. The excretion of succinate and fumarate was increased, a finding previously reported in patients with respiratory chain disorders [Bardosi et al, 1987;Asano et al, 1988;Trijbels et al, 1988;Tanaka et al, 1990;Jakobs et al, 1991;Boor et al, 19921. Cardiomyopathy with septa1 hypertrophy and a life-long history of anemia preexisted the pneumonia.…”

Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency

“…Both cases had elevated succinic acid concentrations in serum and body fluids. These authors [2] concluded a succinate dehydrogenase deficiency to be the cause of the increased succinic acid. Succinate dehydrogenase in liver homogenate, however, was low normal in both cases [2].…”

“…These authors [2] concluded a succinate dehydrogenase deficiency to be the cause of the increased succinic acid. Succinate dehydrogenase in liver homogenate, however, was low normal in both cases [2]. The clinical course in our patient was also severe and began early in life, but [14] succinate dehydrogenase in skeletal muscle was high normal.…”

“…Asano et al [2] described two cases with complex I deficiency and 'succinic acidaemia', A female infant died of progressive congenital lactic acidosis and respiratory insufficiency at the age of 5 weeks. Another pregnancy was terminated in the 22nd week because lactate was increased in the amniotic fluid (10.7mmol/1).…”

Feeding Problems and Lactic Acidosis in a 10-Week-Old Boy

“…Episodic vomiting is a fea ture [12]. The most commonly demonstrated etiology is a defect within complex I of the respiratory chain, but this was only demonstrated in 7 out of 26 described cases [14], Patients with MMERF (myocolonic epilepsy with ragged red fibers) are usually adults with myo clonic seizures and ataxia. Those with Kearns-Sayre syndrome generally present before the age of 15 with ophthalmoplegia and retinal degeneration -often with heart block and elevated CSF protein [12], Six different presentations have been described in children.…”