primary hyperoxaluria type 2

A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gen

A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2.

Signs and symptoms

• Elevated urinary L-glycerate level
• Hyperoxaluria
• Calcium oxalate nephrolithiasis
• Nephrocalcinosis
• Hematuria
• Reduced hepatic glyoxylate reductase activity
• Renal insufficiency
• Abnormal circulating creatinine concentration
• Abnormality of urine calcium concentration
• Metabolic acidosis

Also known as: D-glycerate dehydrogenase deficiency; HP2; L-glyceric aciduria; glyoxylate reductase/hydroxypyruvate reductase deficiency; oxalosis II