Isolated sulfite oxidase deficiency

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

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.40, sa.2, ss.105-108, 2005 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 40 Sayı: 2
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1002/ajmg.a.30796
  • Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.105-108
  • Anahtar Kelimeler: blood uric acid, intractable seizure, sulfite oxidase
  • Gazi Üniversitesi Adresli: Evet

Özet

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.