Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage

Teksam O., Yurdakok M., Coskun T.

JOURNAL OF CHILD NEUROLOGY, vol.20, no.2, pp.155-157, 2005 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 2
  • Publication Date: 2005
  • Doi Number: 10.1177/08830738050200021501
  • Journal Name: JOURNAL OF CHILD NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.155-157
  • Hacettepe University Affiliated: Yes

Abstract

Molybdenum cofactor deficiency leads to combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzyme activities. The major clinic symptom is intractable seizures seen soon after birth. No definite therapy is available. We report here a newborn with molybdenum cofactor deficiency-associated Dandy-Walker malformation who presented with severe lactic acidosis and intracranial hemorrhage.