Rare Diseases Symptoms Automatic Extraction

[Dietary advice for treatment of inborn errors of metabolism in adult neurology: principes and limitations].

[pyruvate dehydrogenase deficiency]

Special diets can be an efficient treatment for certain inborn errors of metabolism. Regimens applicable in adult neurology include low protein diet (phenylketonuria, homocystinuria, urea cycle disorders, organic acidurias), low fatty acid diets (fatty acid B oxidation defects, adrenomyeloneuropathy, Refsum's disease) and ketogenic diet (pyruvate dehydrogenase deficiency, glucose transporter (GLUT1) deficiency, refractory epilepsy). Although, these regimens can be very efficient in some instances, withdrawal and nutrient deficiencies are major problems encountered.

Diseases presenting "homocystinuria" symptom

  • adrenomyeloneuropathy
  • cohen syndrome
  • homocystinuria without methylmalonic aciduria
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency

This symptom has already been validated