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

Ann Thorac Surg. 2001 Oct;72(4):1391-2. doi: 10.1016/s0003-4975(00)02605-9.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / surgery*
  • Amino Acid Metabolism, Inborn Errors / urine
  • Blood Vessel Prosthesis Implantation
  • Female
  • Heart Septal Defects, Ventricular / surgery*
  • Heart Septal Defects, Ventricular / urine
  • Homocystinuria / surgery*
  • Homocystinuria / urine
  • Humans
  • Infant, Newborn
  • Methylmalonic Acid / urine*
  • Perioperative Care

Substances

  • Methylmalonic Acid