Glutathione synthetase deficiency associated with antenatal cerebral bleeding

J Inherit Metab Dis. 2004;27(2):275-6. doi: 10.1023/b:boli.0000028844.84760.a1.

Abstract

We present a newborn with glutathione synthetase deficiency and intracranial haemorrhages. Because the latter are rare in term newborns a possible relationship with glutathione synthetase deficiency will be discussed.

Publication types

  • Case Reports

MeSH terms

  • Blood Platelets / enzymology*
  • Cerebral Hemorrhage / congenital
  • Cerebral Hemorrhage / etiology*
  • Cerebral Hemorrhage / metabolism*
  • Female
  • Fetal Diseases / etiology
  • Fetal Diseases / metabolism
  • Glutathione Synthase / deficiency*
  • Humans
  • Infant, Newborn
  • Male
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / metabolism*
  • Pregnancy

Substances

  • Glutathione Synthase