Clinical feature: 

Definition: Hereditary oxalosis is an autosomal recessive disease characterized by excessive renal excretion and sedimentation of oxalate due to overproduction. It results in as urolithiasis and nephrocalcinosis. Depending on the affected gene, two types can be distinguished.

Pathogenesis: The key pathogenetic feature is the enhanced conversion of glyoxalate into poorly soluble oxalate. To drive glyoxalate into this unfortunate metabolic pathway, two enzyme deficiencies are known, which account for type 1 and 2 (alanine-glyoxylate aminotransferase and glyoxalate reductase/D-glycerate dehydrogenase respectively).

Epidemiology: Hyperoxaluria is an extremely rare disease. Thre prevalence has been assumed of 1 in 1-15,000,000.
   According to the German data, 2%-2.7% of children with hyperoxaluria develop ESRS, who account for 1% of patients new on dialysiseach year. In a survey performed among American nephrologists from 1997 to 2003, only 102 patients were reported. Most of these patients were Caucasian (84%). Hyperoxaluria type 1 is the most common condition seen in 79 patients compared to only 9 patients with hyperoxaluria type 2; 14 patients remained unclassified.

Literature: 

Purdue PE et al. (1990) Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.
Beck BB et al. (2006) Is there a genotype-phenotype correlation in primary hyperoxaluria type 1?
Lorenzo V et al. (2006) Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience.
Hoppe B et al. (2006) Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1.
Laube N et al. (2005) Problems in the investigation of urine from patients suffering from primary hyperoxaluria type 1.
Hoppe B et al. () Primary hyperoxaluria--the German experience.
Leumann E et al. (2005) Primary hyperoxaluria type 1: is genotyping clinically helpful?
Hoppe B et al. (2004) Diagnostic and therapeutic strategies in hyperoxaluria: a plea for early intervention.
Hoppe B et al. (2004) Diagnostic and therapeutic strategies in hyperoxaluria: a plea for early intervention.
Hoppe B et al. (2003) A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria.
Levy M et al. (2000) Estimating prevalence in single-gene kidney diseases progressing to renal failure.
Latta K et al. (1990) Primary hyperoxaluria type I.