Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

OMIM.ORG article

Omim 260000 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits