[Leigh's syndrome and mitochondrial myopathy].

[pyruvate dehydrogenase deficiency]

Leigh 's syndrome is a subacute encephalopathy with characteristic pathological features and lactic acidosis . This syndrome is due to the disturbance of aerobic metabolism . Pyruvate dehydrogenase deficiency and cytochrome c oxidase deficiency are common metabolic disturbances in this syndrome . Complex I or II deficiency has also been claimed . Recently , mutations of mitochondrial genome have been also identified in some cases with Leigh 's syndrome : np 3243 T to C , np 8344 G to A and np 8993 T to G . The possible correlation between phenotype and genotype in this heterogeneous syndrome was discussed .

Diseases
Validation

Diseases presenting "lactic acidosis" symptom

adrenomyeloneuropathy

alexander disease

cadasil

canavan disease

hereditary cerebral hemorrhage with amyloidosis

homocystinuria without methylmalonic aciduria

neonatal adrenoleukodystrophy

phenylketonuria

pyruvate dehydrogenase deficiency

wolf-hirschhorn syndrome

This symptom has already been validated