A case of severe glutathione synthetase deficiency with novel GSS mutations

摘要: Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form the disease characterized by acute metabolic acidosis, usually present in neonatal period hemolytic anemia and progressive encephalopathy. A case male newborn infant who had acidosis high anion gap, anemia, hyperbilirubinemia reported. level 5-oxoproline was detected his urine diagnosis generalized GSSD made. DNA sequence analysis revealed to be compound heterozygous two mutations, c.738dupG exon 8 GSS gene resulting p.S247fs repetitive 3 gene. Treatment after included supplementation antioxidants oral sodium hydrogen bicarbonate. However, he maintained variable degree succumbed shortly parents requested discontinuation therapy because dismal prognosis medical futility when 18 days old.