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Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).
Clin Genet
December 2024
Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.
Article Synopsis
- Glutathione synthetase deficiency is a rare genetic disorder caused by mutations in the GSS gene, leading to varying severity levels, from mild hemolytic anemia to severe neurological issues and even neonatal death.
- A study on two fetal siblings revealed multiple congenital anomalies, such as limb malformations, cleft palate, and heart defects, linked to specific genetic variants in the GSS gene.
- Genome sequencing and analysis indicated that these genetic variants likely caused disruptions in protein expression and metabolic processes, suggesting a broader range of phenotypic effects associated with glutathione synthetase deficiency.
A case report of Paracetamol related pyroglutamic acidosis: mind the gap in a malnourished patient.
BMC Nephrol
August 2024
Department of Nephrology, Dialysis, and Transplantation, Bicêtre University Hospital, APHP, Paris Saclay University, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, 94270, France.
Background: Pyroglutamic acidosis is a rare cause of high anion gap metabolic acidosis. Most cases of paracetamol related pyroglutamic acidosis are described in malnourished women and patients with kidney/liver failure, alcohol use or severe sepsis. In this report, we describe how pyroglutamic acidosis could be related to the use of chronic therapeutic paracetamol with only malnutrition as an associated risk factor.
View Article and Find Full Text PDFIntroduction: Inherited 5-oxoprolinase (OPLAH) deficiency is a rare inborn condition characterized by 5-oxoprolinuria. The inherited condition of 5-oxoprolinuria, or pyroglutamic aciduria, is primarily caused by mutations in the genes that encode glutathione synthetase (GSS) and 5-oxoprolinase (OPLAH), which are enzymes involved in the gamma-glutamyl cycle in glutathione metabolism. We report a 3-year-old male patient with epilepsy and speech difficulty diagnosed as primary 5-oxoprolinuria due to a novel gene mutation.
View Article and Find Full Text PDFGss deficiency causes age-related fertility impairment via ROS-triggered ferroptosis in the testes of mice.
Cell Death Dis
December 2023
Department of Reproductive Medicine, Central Hospital Affiliated to Shandong First Medical University, Jinan, 250013, China.
Article Synopsis
- * GSS knockout leads to age-dependent male fertility issues due to increased oxidative stress, where young mice compensate with another antioxidant (GPX4), but older ones suffer from ROS accumulation and testicular damage.
- * The study shows that inhibiting ferroptosis (a form of cell death) can mitigate fertility problems caused by GSS deletion, offering potential strategies for treating male infertility linked to oxidative stress during aging.
Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation.
Front Pediatr
July 2023
Department of Neonatology, Children's Hospital of Hebei Province, Shijiazhuang, China.
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.
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