Primary Hyperoxaluria Type I

Bilateral nephrocalcinosis in primary hyperoxaluria type 1

A 31-year-old male presented with recurrent renal stones from the age of 12 years and renal failure secondary to nephrolithiasis on hemodialysis for the past 6 years. He had been born of a consanguineous union and one out of his five siblings also had a history of renal failure secondary to nephrolithiasis. He had moderate anemia. Abdominal X-ray showed bilateral nephrocalcinosis with multiple ...

Primary Hyperoxaluria

Primary hyperoxalurias are rare recessive inherited inborn errors of glyoxylate metabolism. They are responsible for progressive renal involvement, which further lead to systemic oxalate deposition, which can even occur in infants. Primary hyperoxaluria type 1 is the most common form in Europe and is due to alanine-glyoxylate aminostransferase deficiency, a hepatic peroxisomal pyridoxin-depende...

Primary hyperoxaluria

Successful kidney retransplantation after combined liver/kidney transplantation in primary hyperoxaluria type I.

Key words: combined liver/kidney transplantation; reference range of 20–40 mmol/l. Prior to analysis, an nephrocalcinosis; primary hyperoxaluria ultrafiltration of plasma to remove proteins and others molecules was performed. Urine ion chromatography was used for measuring urine oxalate concentration with a reference range of

Protein Homeostasis Defects of Alanine-Glyoxylate Aminotransferase: New Therapeutic Strategies in Primary Hyperoxaluria Type I

Alanine-glyoxylate aminotransferase catalyzes the transamination between L-alanine and glyoxylate to produce pyruvate and glycine using pyridoxal 5'-phosphate (PLP) as cofactor. Human alanine-glyoxylate aminotransferase is a peroxisomal enzyme expressed in the hepatocytes, the main site of glyoxylate detoxification. Its deficit causes primary hyperoxaluria type I, a rare but severe inborn error...