CblC/D defect combined with haemodynamically highly relevant VSD

J Inherit Metab Dis. 2001 Aug;24(4):511-2. doi: 10.1023/a:1010541932476.

Abstract

An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Folic Acid / administration & dosage
  • Heart Septal Defects, Ventricular / complications*
  • Heart Septal Defects, Ventricular / diagnosis
  • Heart Septal Defects, Ventricular / surgery*
  • Homocysteine / blood
  • Homocystinuria / complications*
  • Homocystinuria / diagnosis
  • Homocystinuria / therapy
  • Humans
  • Hydroxocobalamin / administration & dosage
  • Infant, Newborn
  • Lactic Acid / blood
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / therapy
  • Methionine / blood
  • Methylmalonic Acid / urine*

Substances

  • Homocysteine
  • Lactic Acid
  • Methylmalonic Acid
  • Folic Acid
  • Methionine
  • Hydroxocobalamin