Rare Diseases Symptoms Automatic Extraction

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


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 "epilepsy" symptom

  • 22q11.2 deletion syndrome
  • adrenomyeloneuropathy
  • alexander disease
  • canavan disease
  • classical phenylketonuria
  • cohen syndrome
  • cowden syndrome
  • familial hypocalciuric hypercalcemia
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • pendred syndrome
  • phenylketonuria
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated