Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy

Neuropediatrics. 2007 Feb;38(1):38-41. doi: 10.1055/s-2007-981484.

Abstract

We report a newborn with progressive leukoencephalopathy and lactic acidaemia, diagnosed with isolated sulfite oxidase deficiency. We show that low plasma total homocysteine (PTHcy) is a valuable early indicator of sulfite oxidase dysfunction, providing a crucial first-line screen, whereas plasma cystine is not always informative in the first few days of life.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic / blood
  • Acidosis, Lactic / diagnosis*
  • Acidosis, Lactic / etiology
  • Brain Diseases / blood
  • Brain Diseases / diagnosis*
  • Brain Diseases / etiology
  • Homocysteine / blood
  • Humans
  • Infant, Newborn
  • Lactic Acid / blood*
  • Male
  • Sulfite Oxidase / deficiency*

Substances

  • Homocysteine
  • Lactic Acid
  • Sulfite Oxidase