Rare Diseases Symptoms Automatic Extraction

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.

[pyruvate dehydrogenase deficiency]

The association of progressive episodic dystonia and learning disability with distinctive neuroimaging findings may lead to consideration of atypical Pantothenate Kinase Associated Neurodegeneration (PKAN) and investigations directed towards that diagnosis. Recent reports indicate that deficiency of dihydrolipoamide acetyltransferase, the E2 component of the pyruvate dehydrogenase complex, may present similarly, and that this disorder should also be considered in the differential diagnosis. We describe two sisters with early onset episodic dystonia and pyruvate dehydrogenase deficiency caused by defects in the E2 subunit. Both have neuroimaging features similar to previously described patients and have mutations in the DLAT gene. As this condition is potentially treatable with a ketogenic diet, the possibility of this diagnosis should be considered in similar cases.

Diseases presenting "early onset" symptom

  • 22q11.2 deletion syndrome
  • alexander disease
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • cadasil
  • canavan disease
  • coats disease
  • cohen syndrome
  • congenital diaphragmatic hernia
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • fabry disease
  • familial mediterranean fever
  • homocystinuria without methylmalonic aciduria
  • inclusion body myositis
  • kindler syndrome
  • krabbe disease
  • papillon-lefèvre syndrome
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • sneddon syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • werner syndrome
  • wolf-hirschhorn syndrome

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