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

Hyperoxaluria type 1

The autosomal recessive oxalosis 1 is hyperoxaluria, oxalate nephrolithiasis and nephrocalcinosis due to mutations of the AGXT gene.

Management

Aside from combined liver and renal transplant, with dequalinium chloride (DECA), proper peroxisomal trafficking of AGT can be restored[Error: Macro 'ref' doesn't exist]

Systematic

Hyperoxaluria
Hyperoxaluria type 1
AGXT
Hyperoxaluria type 2
Hyperoxaluria type 3
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