A newborn infant with generalized glutathione synthetase deficiency


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

TURKISH JOURNAL OF PEDIATRICS, vol.46, no.1, pp.72-75, 2004 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 1
  • Publication Date: 2004
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.72-75
  • Çukurova University Affiliated: Yes

Abstract

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.