Mitochondrial encephalopathy, lactic acidosis and

The condition known as fatal infantile mitochondrial myopathy and renal dysfunction involves severe diminution or absence of most oxidoreductases of the respiratory chain. MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke) is an inherited condition due to NADHiubiquinone oxidoreductase (complex I) or cytochrome oxidase deficiency. It is caused by a muta-... 

The clinical symptoms of mitochondrial diseases are highly varied and include seizures, vomiting, deafness, dementia, stroke-like episodes, and short stature. Although there are many types of mitochondrial disorders, four of the most common types are as follows Kearns-Sayre syndrome, Leber s hereditary optic atrophy, MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) and MERRE (myoclonic epilepsy with ragged red fibres). 

MELAS (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes)... 

Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS)... 

Al. Abe, K., Fujimura, H., Nishikawa, Y., Yorifuji, S., Mezaki, T., Hirono, N., Nishitani, N., and Kameyama, M., Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Acta Neurol. Scand. 83, 356-359 (1991). 

Cll. Chomyn, A., Enriquez, J. A., Micol, V., Fernandez-Silva, P., and Attardi, G., The Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial 1 k A1 11 k i mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. J. Biol. Chem. 275, 19198—19209 (2000). 

K3. King, M. P., Koga, Y., Davidson, M., and Schon, E. A., Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALe (UUR> mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Mol. Cell. Biol. 12, 480-490 (1992). 

A limited quantity of D-lactate is converted to pyruvate by a mitochondrial flavoprotein enzyme D-2-hydroxy acid dehydrogenase. Thus, the development of D-lactate acidosis requires excessive production of D-lactate and an impairment in its metabolism. The clinical manifestations of D-lactic acidosis are characterized by episodes of encephalopathy after ingestion of foods containing carbohydrates. 

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