Rare Diseases Symptoms Automatic Extraction

[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 presenting "encephalopathy" symptom

  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • child syndrome
  • congenital toxoplasmosis
  • dedifferentiated liposarcoma
  • hereditary cerebral hemorrhage with amyloidosis
  • homocystinuria without methylmalonic aciduria
  • legionellosis
  • locked-in syndrome
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • sneddon syndrome
  • systemic capillary leak syndrome
  • waldenström macroglobulinemia
  • werner syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated