Thelansis

  Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by mutations in the AGXT gene, inherited in an autosomal recessive manner. This condition inflicts irreversible harm on the kidneys and other vital organs, carrying the potential for life-threatening consequences. PH1 results from a deficiency of the liver peroxisomal enzyme called alanine: glyoxylate-aminotransferase (AGT). AGT plays a crucial role in converting glyoxylate into glycine. Individuals affected by PH1 are susceptible to recurrent nephrolithiasis, which is the deposition of calcium oxalate in the renal pelvis and urinary tract, nephrocalcinosis, characterized by calcium oxalate buildup in the renal parenchyma, and end-stage renal disease (ESRD). Roughly 10% of those with PH1 experience symptoms during infancy or early childhood, including nephrocalcinosis, sometimes nephrolithiasis, and growth issues due to renal failure. Most individuals with PH1 are diagnosed during childhood or early adolescence...

 Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by mutations in the AGXT gene, inherited in an autosomal recessive manner. This condition inflicts irreversible harm on the kidneys and other vital organs, carrying the potential for life-threatening consequences. PH1 results from a deficiency of the liver peroxisomal enzyme called alanine: glyoxylate-aminotransferase (AGT). AGT plays a crucial role in converting glyoxylate into glycine. Individuals affected by PH1 are susceptible to recurrent nephrolithiasis, which is the deposition of calcium oxalate in the renal pelvis and urinary tract, nephrocalcinosis, characterized by calcium oxalate buildup in the renal parenchyma, and end-stage renal disease (ESRD). Roughly 10% of those with PH1 experience symptoms during infancy or early childhood, including nephrocalcinosis, sometimes nephrolithiasis, and growth issues due to renal failure. Most individuals with PH1 are diagnosed during childhood or early adolescence, o...