Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage

Teksam O., Yurdakok M., Coskun T.

JOURNAL OF CHILD NEUROLOGY, cilt.20, sa.2, ss.155-157, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 2
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1177/08830738050200021501
  • Dergi Adı: JOURNAL OF CHILD NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.155-157
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.