The autosomal recessive oxalosis 1 is hyperoxaluria, oxalate nephrolithiasis and nephrocalcinosis due to mutations of the AGXT gene.
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]
Also available is an RNA interference therapy RNAi(Givosiran).[Error: Macro 'ref' doesn't exist]
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None (1993) Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. |
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None (1998) Preemptive liver transplantation from a living related donor for primary hyperoxaluria type I. |
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None () //// |
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Liebow A et al. (2017) An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria. |
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Walden U et al. (1999) Primary hyperoxaluria 1: catch up growth and normalization of oxaluria 6 years after hepatorenal transplantation in a prepubertal boy. |
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FREDERICK EW et al. (1963) STUDIES ON PRIMARY HYPEROXALURIA. I. IN VIVO DEMONSTRATION OF A DEFECT IN GLYOXYLATE METABOLISM. |
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32. |
Nishiyama K et al. (1991) Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. |
33. |
Latta K et al. (1990) Primary hyperoxaluria type I. |
34. |
Small KW et al. (1990) Ocular findings in primary hyperoxaluria. |
35. |
Takada Y et al. (1990) Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. |
36. |
McDonald JC et al. (1989) Reversal by liver transplantation of the complications of primary hyperoxaluria as well as the metabolic defect. |
37. |
Danpure CJ et al. (1987) Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity. |
38. |
Danpure CJ et al. (1988) Prenatal exclusion of primary hyperoxaluria type 1. |
39. |
Danpure CJ et al. (1989) An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. |
41. |
Danpure CJ et al. (1988) Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1. |
42. |
Baethge BA et al. (1988) Livedo reticularis and peripheral gangrene associated with primary hyperoxaluria. |
43. |
Danpure CJ et al. (1986) Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. |
44. |
Watts RW et al. (1985) Primary hyperoxaluria (type I): attempted treatment by combined hepatic and renal transplantation. |
45. |
Will EJ et al. (1979) Primary oxalosis: clinical and biochemical response to high-dose pyridoxine therapy. |
46. |
OMIM.ORG article Omim 259900 |
47. |
Wikipedia article Wikipedia EN (Primary_hyperoxaluria) |