Table 2.

HOGA1 variants in patients with mild hyperoxaluria and/or calcium oxalate urolithiasis

PtHOGA1Urine Oxalate (Normal <0.46) (mmol/24 h)Urine Calcium (Normal <300) (mg/24 h)Urine Uric Acid (Normal <750) (mg/24 h)Urine Citrate (Normal >150) (mg/24 h)Urine Glyoxylate (Normal <3) (μg/mg creat)Urine Glycolate (Normal <79) (μg/mg creat)Urine Glycerate (Normal <19) (μg/mg creat)Plasma Oxalate (Normal <1.8) (μmol/L)
Mutation 1Mutation 2
Patients with mild hyperoxaluria
1ac.907 C>T, p.R303CNone detected0.58426710813NANANANA
2ac.944_946 het del AGGNone detected0.18 to 1.4811 to 24417 to 541<50 to 531NA2 to 110 to 27<1 to 14.3
Idiopathic calcium oxalate stone formers
3ac.745 C>G p.Q249ENone detected0.38143756697NANANANA
4ac.860 G>T, p.G287VNone detected0.45 (1)248 (1)560 (1)734 (1)
0.52 (2)152 (2)553 (2)637 (2)
0.45 (3)261 (3)851 (3)490 (3)NANANANA
5ac.714 C>T, p.G238GNone detected0.36166501737NANANANA
  • Novel variants are depicted in bold type. Patient 1a is a brother of patient 2. There were three available 24-hour urine collections for patient 4a. Normal adult reference values apply: urine oxalate (<0.46 mol/24 h), urine calcium (<300 mg/24 h), and urine uric acid (<750 mg/24 h). Pt, patient; creat, creatinine; NA, not available.