primary hyperoxaluria type 1

A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3.

Signs and symptoms

• Nephrocalcinosis
• Hyperoxaluria
• Renal insufficiency
• Elevated urinary glycolic acid level
• Dehydration
• Elevated urinary glyoxylic acid level
• Arterial occlusion
• Calcinosis cutis
• Reduced hepatic alanine-glyoxylate aminotransferase activity
• Increased bone mineral density

Also known as: HP1; alanine-glyoxylate aminotransferase deficiency; glycolic aciduria; hepatic AGT deficiency; oxalosis I