Diagnosis of glutathione synthetase deficiency in newborn screening.

摘要: Glutathione synthetase (GSS) deficiency is a rare disorder of glutathione metabolism with varying clinical severity. Patients may present haemolytic anaemia alone or together acidosis and central nervous system impairment. Diagnosis made by presentation detection elevated concentrations 5-oxoproline in urine low GSS activity erythrocytes cultured skin fibroblasts. can be confirmed mutational analysis. Treatment consists the correction acidosis, blood transfusion, supplementation antioxidants. The most important determinants for outcome survival patients are early diagnosis initiation treatment. case newborn diagnosed tandem mass spectrometry (MS/MS)-based screening described. After onset symptoms on 2nd day life, expanded revealed normal results all disorders included German programme; however, selective MS/MS >10-fold elevation dried blood, leading to presumptive 5th life. was later markedly reduced concentration analysis gene. Presently, not programmes Europe. As depends significantly start treatment, routine inclusion this panels should considered.