| Symbol
| PHXL1
|
| Location
| 2q37.3
|
| Name
|
hyperoxaluria, primary, type I |
| Other name(s)
|
oxalosis I
alanine-glyoxylate aminotransferase deficiency |
| Corresponding gene
|
AGXT
|
| Other symbol(s)
| AGAT, AGXT, HP1
|
| Main clinical features
|
severe kidney stone disease and/or nephrocalcinosis
high urinary oxalate excretion and progressive bilateral oxalate urolithiasis and nephrocalcinosis with extrarenal deposits of oxalate in later stages and death from renal failure occurs in childhood or early adult life |
| Genetic determination
| autosomal recessive |
| Prevalence
| 1 in 120,000 live births
|
| Function/system disorder
| metabolism/peroxisomal |
| Type
| disease
|
| Name
| alanine : glyoxylate aminotransferase
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| missense
|
| abnormal protein/loss of function
| perturbing AGT folding, dimerization and stability
| |
| Remark(s)
|
AGT deficiency results in increased synthesis and excretion of the metabolic end-product oxalate and deposition of insoluble calcium oxalate in the kidney and urinary tract (Danpure 2005) |