Glutathione synthetase deficiency (GSSD) is an autosomal-recessive metabolic disorder caused by glutathione synthetase () gene mutations. No more than 90 cases of GSSD have been reported worldwide; thus, the spectrum of mutations and the genotype-phenotype association remain unclear. Here, we present a severely affected infant carrying a compound heterozygous variation, c.491G > A, and a novel variant of c.1343_1348delTACTTC. We also summarize the clinical manifestations, treatment protocol, prognosis, and genetic characteristics of previously reported GSSD cases in China. In this case study, our patient presented with tachypnea, jaundice, intractable metabolic acidosis, and hemolytic anemia. Urinary-organic acid analysis revealed elevated 5-oxoproline levels. Further, this patient showed improved outcomes owing to early diagnosis and the timely administration of vitamins C and E. Therefore, our study indicates that in clinical cases of unexplained hemolytic anemia and metabolic acidosis, GSSD should be considered. Additionally, genetic testing and antioxidant application might help identify GSSD and improve the prognosis.
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http://dx.doi.org/10.3389/fped.2023.1212405 | DOI Listing |
Cardiovasc Ther
January 2025
Department of Cardiology The First Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
This study is aimed at investigating the effects of atorvastatin (ATV) on endothelial cell injury in atherosclerosis (AS) through inhibiting acyl-CoA synthetase long-chain family member 4 (ACSL4)-mediated ferroptosis. Human umbilical vein endothelial cells (HUVECs) were treated with oxidized low-density lipoprotein (ox-LDL) to establish an in vitro model of AS. The cell viability, lactate dehydrogenase (LDH) release, apoptosis, and expression levels of apoptotic proteins were assessed.
View Article and Find Full Text PDFFree Radic Biol Med
December 2024
Laboratory of Reproductive Endocrinology, Graduate School of Integrated Sciences for Life, Hiroshima University, 1-4-4, Kagamiyama, Higashihiroshima, Hiroshima, 7398528, Japan. Electronic address:
Sperm cells are highly susceptible to oxidative stress, which decreases their motility and fertility. However, glutathione (GSH) plays a critical role in protecting sperm cells from oxidative damage, a common byproduct of mitochondrial oxidative phosphorylation. On the other hand, GSH biosynthesis in sperm is limited by the availability of cysteine (Cys), which is inherently unstable and found at low concentrations in boar seminal plasma.
View Article and Find Full Text PDFCytojournal
November 2024
Department of Emergency, The First People's Hospital of Tongxiang, Tongxiang, Zhejiang, China.
Objective: Ferroptosis has been described in association with acute kidney injury (AKI)-induced sepsis. Fibronectin type III domain containing protein 5 (FNDC5)/irisin plays a crucial role in renal protection. The objective of this study was to investigate whether FNDC5/irisin is involved in AKI-induced sepsis by modulating ferroptosis, and the molecular mechanisms that may be involved.
View Article and Find Full Text PDFNan Fang Yi Ke Da Xue Xue Bao
December 2024
Department of Histology and Embryology, School of Basic Medical Sciences, Xinjiang Medical University, Urumqi 830000, China.
Objectives: To investigate the inhibitory effect of FER-1 on methylglyoxal-induced ferroptosis in cultured mouse alveolar macrophages.
Methods: MH-S cells derived from mouse alveolar macrophages treated with 90 μg/mL methylglyoxal, 10 μmol/mL FER-1MG+FER-1, or both were examined for intracellular reactive oxygen species (ROS), malondialdehyde (MDA) and ferrous ion (Fe) levels and changes in mitochondrial membrane potential. Western blotting was performed to detect the protein expression levels of glutathione peroxidase 4 (GPX4) and long-chain acyl-CoA synthase 4 (ACSL4).
Pest Manag Sci
December 2024
College of Plant Protection, Northeast Agricultural University, Harbin, China.
Background: Phytophthora sojae (Kaufmann and Gerdemann), a pathogenic oomycete, causes one of the most destructive soybean diseases, Phytophthora root and stem rot (PRR). Previous studies have shown that benzoxazines (BXs) such as 6-methoxy-benzoxazolin-2-one (MBOA) and benzoxazoline-2-one (BOA) in maize root exudates inhibit the chemotaxis of zoospores, as well as the mycelial growth and pathogenicity of P. sojae.
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