Table 1.

HOGA1 screening, hepatic enzyme analysis, and metabolic profile

PtHOGA1 Mutation 1HOGA1 Mutation 2AGT Activity (Normal 19.1 to 47.9 μmol/hr/mg protein)GRHPR Activity (Normal 23 to 207 nmol/min/mg protein)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)Screat (mg/dl) @ PoxEnteric Oxalate Absorption (Normal <15%) (%)a
1IVS700 + 5G>Tc.944_946 het_delAGG47.858NA191NANA
2c.907C>T,p.R303Cc.944_946 het_delAGG29.7490603.31.63.1
3c.944_946 het_delAGGc.944_946 het_delAGGAGXT mutation negativeGRHPR mutation negativeNANANANANA
4IVS700 + 5G>Tc.944_946 het_delAGGAGXT mutation negativeGRHPR mutation negative1.6164NANA
5IVS700 + 5G>Tc.860G>T,p.G287VAGXT mutation negativeGRHPR mutation negativeNANANANANA
6IVS700 + 5G>TIVS700 + 5G>T45741.01723.30.62.3
7IVS700 + 5G>Tc.569C>T,p.P190L40.4430.71006.61.2NA
8IVS700 + 5G>Tc.763C>T,p.R255XAGXT mutation negativeGRHPR mutation negative01640NANA
9IVS700 + 5G>TIVS700 + 5G>T325305810NANA
10IVS700 + 5G>Tc.839 C>T, p.T280IAGXT mutation negativeGRHPR mutation negative0.7802.4NANA
  • Novel variants are depicted in bold type. Measurement of enteric oxalate absorption whenever available. Pt, patient; Screat (mg/dl) @ Pox, serum creatinine at time of plasma oxalate measurement; AGT (alanine:glyoxylate aminotransferase); GRHPR (glyoxylate/hydroxypyruvate reductase); NA, not available.

  • a Literature-derived normal.