Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyperoxaluria type 2

The autosomal recessive oxalosis 2 is hyperoxaluria, oxalate nephrolithiasis and nephrocalcinosis due to mutations of the GRHPR gene.

Systematic

Hyperoxaluria
Hyperoxaluria type 1
Hyperoxaluria type 2
GRHPR
Hyperoxaluria type 3

References:

1.

Cramer SD et al. (1999) The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.

[^]
2.

Seargeant LE et al. (1991) Primary oxaluria type 2 (L-glyceric aciduria): a rare cause of nephrolithiasis in children.

[^]
3.

Van Schaftingen E et al. (1989) Coenzyme specificity of mammalian liver D-glycerate dehydrogenase.

[^]
4.

Yendt ER et al. (1985) Response to a physiologic dose of pyridoxine in type I primary hyperoxaluria.

[^]
5.

Williams HE et al. (1971) Hyperoxaluria in L-glyceric aciduria: possible pathogenic mechanism.

[^]
6.

Kemper MJ et al. (1997) Primary hyperoxaluria type 2.

[^]
Update: Sept. 26, 2018