A newborn infant with generalized glutathione synthetase deficiency

YAPICIOGLU H., Satar M., Tutak E., NARLI N., TOPALOGLU A. K.

TURKISH JOURNAL OF PEDIATRICS, cilt.46, sa.1, ss.72-75, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 46 Sayı: 1
  • Basım Tarihi: 2004
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.72-75
  • Çukurova Üniversitesi Adresli: Evet

Özet

Pyroglutamic aciduria (5-oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) or 5-oxoprolinase deficiency. The severe form of the disease, generalized GSSD, is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy.