Isolated sulfite oxidase deficiency

Senbil N., Tosun M. S., EZGÜ F. S., Gurer Y. K. Y.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, vol.40, no.2, pp.105-108, 2005 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 40 Issue: 2
  • Publication Date: 2005
  • Doi Number: 10.1002/ajmg.a.30796
  • Journal Name: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.105-108
  • Keywords: blood uric acid, intractable seizure, sulfite oxidase
  • Gazi University Affiliated: Yes

Abstract

Isolated sulfite oxidase deficiency is a very rare autosomal recessive disorder associated with metabolism of sulfur containing amino acids. A 4-month-old girl with intractable seizures and feeding difficulty diagnosed as isolated sulfite oxidase deficiency is presented.