Journal of pediatric endocrinology & metabolism : JPEM · 2025
Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period.
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Demirsu Aysegul, Aliyev Ferid, Yucel Elif, Çıkı Kısmet, Yıldız Yılmaz, Ürel-Demir Gizem, Simsek-Kiper Pelin Ozlem, Bozat Ali Dinc, Aykan Hakan, Öncel Ibrahim Halil, Fadiloglu Erdem, Yigit Sule
Аннотация
OBJECTIVES: Glutathione synthetase deficiency (GSSD) is a rare, autosomal recessive disease that causes disruption in glutathione metabolism. According to clinical findings, it occurs in three forms: mild, moderate and severe. In severe forms, metabolic acidosis and hemolytic anemia are accompanied by neurological findings. Although there is no definitive treatment, early initiation of sodium bicarbonate, vitamin C, and vitamin E supplements is one of the most important factors affecting prognosis.
CASE PRESENTATION: Here we present a severe case of GSSD in a neonate with intrauterine periventricular cystic lesions, and postnatally developed severe hemolytic anemia, metabolic acidosis, and dilated cardiomyopathy. Exchange transfusion and peritoneal dialysis were performed because of refractory hyperbilirubinemia and acidosis despite sodium bicarbonate and vitamin supplementation.
CONCLUSIONS: Early diagnosis and initiation of supportvive treatment with sodium bicarbonate, vitamin C, and vitamin E are esential for survival in severe GSSD. Dilated cardiomyopathy may represent a new complication of disease, highlighting the need for early cardiac monitoring.
CASE PRESENTATION: Here we present a severe case of GSSD in a neonate with intrauterine periventricular cystic lesions, and postnatally developed severe hemolytic anemia, metabolic acidosis, and dilated cardiomyopathy. Exchange transfusion and peritoneal dialysis were performed because of refractory hyperbilirubinemia and acidosis despite sodium bicarbonate and vitamin supplementation.
CONCLUSIONS: Early diagnosis and initiation of supportvive treatment with sodium bicarbonate, vitamin C, and vitamin E are esential for survival in severe GSSD. Dilated cardiomyopathy may represent a new complication of disease, highlighting the need for early cardiac monitoring.