Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency
-
Mehmet Gündüz
,
Sumru Kavurt
Abstract
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 long-term follow up of three patients.
Methods: Urine organic acid analysis was performed with gas chromatography-mass spectrometry. Molecular genetic analysis was performed in three patients, mutation was found in two of them. Enzyme analysis was performed in one patient. Clinical and laboratory findings of four patients were evaluated.
Results: One patient died at 4 months old, one patient’s growth and development are normal, two patients have developed intellectual disability and seizures in the long term follow up period. Three patients benefited from sodium hydrogen carbonate treatment.
Conclusions: The clinical picture varies from patient to patient, so it is difficult to predict the prognosis and the effectiveness of treatment protocols. We reported long term follow up of four patients and demonstrated that sodium hydrogen carbonate is effective for treatment of chronic metabolic acidosis in GS deficieny.
References
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©2016 by De Gruyter
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Articles in the same Issue
- Frontmatter
- Highlight: Vitamin D in Health and Disease
- Vitamin D in health and disease: the global threat of vitamin D deficient rickets
- Effect of 6-months’ vitamin D supplementation on residual beta cell function in children with type 1 diabetes: a case control interventional study
- Low serum sclerostin levels in newborns with vitamin D deficiency
- Vitamin D status in perinatally HIV-infected Thai children receiving antiretroviral therapy
- Efficacy and safety of a single monthly dose of cholecalciferol in healthy school children
- Exposure to sunshine early in life prevented development of type 1 diabetes in Danish boys
- It’s high time to revise Indian guidelines on vitamin D supplementation in children
- Review
- Slipped capital femoral epiphysis and associated hypothyroidism. A review of the literature with two classic case examples
- Original Articles
- Relationship between oxidative stress and blood glucose fluctuations evaluated with daily glucose monitoring in children with type 1 diabetes mellitus
- Association between circulating CCL2 levels and modifiable behaviors in overweight and obese adolescents: a cross-sectional pilot study
- Evaluating health risk using a continuous metabolic syndrome score in obese children
- The association of thyroid hormones and blood pressure in euthyroid preadolescents
- Growth failure in adolescents: etiology, the role of pubertal timing and most useful criteria for diagnostic workup
- New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome
- Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency
- Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing
- Case Reports
- Long-term first line medical treatment in a 4-year-old girl with Xq26.3 microduplication-negative somatotropinoma. Case report and literature review
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