Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period
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Aysegul Demirsu
,
Ferid Aliyev
,
Elif Yucel
Abstract
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.
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Research ethics: Not applicable.
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Informed consent: Written informed consent was obtained from patient’s parents for publication of this case report.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interest: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: Not applicable.
References
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Articles in the same Issue
- Frontmatter
- Review
- Effects of exercise training on cardiorespiratory fitness in children and adolescents with overweight or obesity: a systematic review
- Original Articles
- Do patients with idiopathic short stature or partial growth hormone deficiency need to continue growth hormone therapy during puberty?
- A comparative study of the interpretation results of different artificial intelligence bone age assessment software
- Evaluation of children with solid thyroid nodules: a single-center experience
- Is the tracheal index useful for evaluating the thyroid in infants suspected of hypothyroidism?
- The incidence of sellar abnormalities in newly diagnosed children with central precocious puberty: a single-center study based on 625 cases
- Can uric acid levels be helpful for the diagnosis of CPP in girls?
- GLP-1 receptor agonists reduce body mass index and total daily insulin dose in youth with type 1 diabetes: a retrospective cohort study
- Cataract in children with type 1 diabetes: a single-center experience from North India on an underrecognized complication
- Knowledge of advanced carbohydrate counting in children and adolescents with type 1 diabetes and its effect on glycaemic control
- Case Reports
- Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period
- Positive neonatal screening test for congenital adrenal hyperplasia in a case with 3β-hydroxysteroid dehydrogenase type 2 deficiency
- Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome
- Management of porphyria-like syndrome in tyrosinemia type 1
- A 2-year-old girl with merged phenotypes: galactosemia and Coffin–Lowry syndrome
