Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria
Monico CG, Olson JB, Milliner DS
Published in Am J Nephrol, Vol. 25 (2), pp. 183-8
Methodology
Retrospective review of 23 patients with type 1 primary hyperoxaluria (diagnosed by liver enzyme analysis, urine chemistry or a known homozygous mutation) with 24-hour urine oxalate before and after pyridoxine and GFR above 40 ml/min/1.73 m2; PCR-based genotyping.
Key Findings
Pyridoxine response was associated with the G170R and F152I mutations, both of which cause the AGT enzyme to be mistargeted. Eight new sequence changes were found. The background notes that about half of PH1 patients improve on pyridoxine.
Conclusions
Two mistargeting mutations in AGXT (G170R and F152I) are associated with pyridoxine response in PH1; the mechanism remained to be determined.
Limitations
Retrospective, single research group, small sample, no control group; the abstract gives no effect sizes for the F152I association.
Supplements Studied
VB6 response was associated with the G170R and F152I mutations
Related Health Concerns
Study Details
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