Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency

Gunduz M., Unal Ö., Kavurt S., Turk E., Mungan N. O.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.29, no.4, pp.481-485, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 4
  • Publication Date: 2016
  • Doi Number: 10.1515/jpem-2015-0308
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.481-485
  • Keywords: glutathione synthetase deficiency, hemolytic anemia, metabolic acidosis, sodium hydrogen carbonate, ANEMIA
  • Kocaeli University Affiliated: Yes

Abstract

Background: Glutathione synthetase (GS) deficiency is a rare inborn error of glutathione (GSH) metabolism manifested by severe metabolic acidosis, hemolytic anemia, neurological problems and massive excretion of pyroglutamic acid (5-oxoproline) in the urine. The disorder has mild, moderate, and severe clinical variants. We aimed to report clinical and laboratory findings of four patients, effect of sodium hydrogen carbonate treatment and longterm follow up of three patients.