Human genes for primary hyperoxaluria type 1
Primary hyperoxaluria type 1 [DOID:0111670]
A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumuation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in AGXT on chromosome 2q37.3.
Synonyms: primary hyperoxaluria type 1, DOID:0111670, alanine-glyoxylate aminotransferase deficiency, glycolic aciduria, hepatic AGT deficiency ...