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, cilt.29, sa.4, ss.481-485, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1515/jpem-2015-0308
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.481-485
  • Anahtar Kelimeler: glutathione synthetase deficiency, hemolytic anemia, metabolic acidosis, sodium hydrogen carbonate, ANEMIA
  • Kocaeli Üniversitesi Adresli: Evet

Özet

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.