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Synthesis and LDHA Inhibitory Activity of New Stiripentol-Related Compounds of Potential Use in Primary Hyperoxaluria.
Int J Mol Sci
December 2024
Department of Inorganic and Organic Chemistry, Faculty of Experimental Sciences, University of Jaén, Campus of International Excellence in Agri-Food (ceiA3), 23071 Jaén, Spain.
Human lactate dehydrogenase A (LDHA) is a homotetrameric isozyme involved in the conversion of glyoxylate into oxalate in the cytosol of liver cells (hepatocytes) and partially responsible for the overproduction of oxalate in patients with the rare disease called primary hyperoxaluria (PH). Recently, LDHA inhibition has been validated as a safe therapeutic method to try to control the PH disease. Stiripentol (STP) is an approved drug used in the treatment of seizures associated with Dravet's syndrome (a severe form of epilepsy in infancy) which, in addition, has been drawing interest in recent years also for potentially treating PH, due to its LDHA inhibitory activity.
View Article and Find Full Text PDFSpinal Cord Compression as the First Presentation of Primary Hyperoxaluria in a Patient With Kidney Failure: A Case Report and Literature Review.
Kidney Med
January 2025
Department of Neurology, Damascus University-Faculty of Medicine, Damascus, Syria, MA.
A 50-year-old woman with kidney failure complained of back pain and an inability to walk. The medical history included hypothyroidism, nephrolithiasis, and resistant anemia aligned with several transfusions. The examination showed hepatosplenomegaly, lower limb weakness, absence of reflexes, and lack of sensations with a sensory level T6.
View Article and Find Full Text PDFTitle: Identification of a novel GRHPR mutation in primary hyperoxaluria type 2 and establishment of patient-derived iPSC line.
Hum Cell
January 2025
Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, 310052, China.
This research delves into Primary Hyperoxaluria Type 2 (PH2), an autosomal recessive disorder precipitated by a unique case of compound heterozygous deleterious mutations in the GRHPR gene, specifically the intron2/3 c.214-2 T > G and the exon8 c.864-865delTG, leading to a premature stop codon at p.
View Article and Find Full Text PDFBiallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.
Nephrology (Carlton)
January 2025
Center for Genetics and Inherited Diseases, Taibah University Medina, Madinah, Kingdom of Saudi Arabia.
Aim: Autosomal recessive primary hyperoxalurias (PH) are genetic disorders characterised by elevated oxalate production. Mutations in genes involved in glycoxylate metabolism are the underlying cause of PH. Type 1 PH (PH1) results in malfunctioning of alanine-glyoxylate aminotransferase enzymes of liver due to a change in the genetic sequence of alanine-glyoxylate aminotransferase (AGXT) gene.
View Article and Find Full Text PDFCutting through the stones: Unlocking therapeutic potential with gene editing tools for primary hyperoxaluria type 1.
Mol Ther
January 2025
Department of Urology, Gansu Province Clinical Research Center for Urinary System Disease, The Second Hospital & Clinical Medical School, Lanzhou University, Lanzhou, China. Electronic address:
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