Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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, three types can be distinguished.


Hyperoxaluria is an extremely rare disease. The prevalence has been assumed of 1 in 1-15,000,000.[Error: Macro 'ref' doesn't exist]

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.[Error: Macro 'ref' doesn't exist]


Aquired forms of hyperoxaluria can be found if increased amounts of oxalate is absorbed, for instance in short bowel syndrome.


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). A third form of hyperoxaluria is caused by deficiency of the mitochondrial enzyme 4-hydroxy-2-oxoglutarate aldolase 1. Eine dritte Form wird durch eine Funktionsstörung des mitochondrialen Enzyms 4-hydroxy-2-oxoglutarate Aldolase 1 ausgelöst.


Hereditary metabolic kidney disease
Fabry disease
Hereditary amyloidosis
Hyperoxaluria type 1
Hyperoxaluria type 2
Hyperoxaluria type 3
Lysinuric protein intolerance



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Update: Aug. 14, 2020
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