Rare Diseases Symptoms Automatic Extraction

Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria.

[homocystinuria without methylmalonic aciduria]

Methylmalonic acidemia with associated homocystinuria is a rare inborn error of amino acid metabolism affecting energy supply on the cellular level. Its effects on recovery from surgically induced organ ischemia are largely unknown. We report the successful closure of a nonrestrictive ventricular septal defect by following a normothermic strategy combined with ample metabolic substrate supply.

Diseases presenting "ventricular septal defect" symptom

  • 22q11.2 deletion syndrome
  • cohen syndrome
  • cowden syndrome
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • wolf-hirschhorn syndrome

This symptom has already been validated