Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

References:

1.

Purdue PE et al. (1990) Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.

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2.

Pirulli D et al. (1999) Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.

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3.

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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4.

Cochat P et al. (1999) Primary hyperoxaluria in infants: medical, ethical, and economic issues.

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5.

Theodossiadis PG et al. (2002) Choroidal neovascularization in primary hyperoxaluria.

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6.

FREDERICK EW et al. (1963) STUDIES ON PRIMARY HYPEROXALURIA. I. IN VIVO DEMONSTRATION OF A DEFECT IN GLYOXYLATE METABOLISM.

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7.

Williams EL et al. (2009) Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

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8.

Purdue PE et al. (1991) Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.

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9.

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.

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10.

Latta K et al. (1990) Primary hyperoxaluria type I.

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11.

Small KW et al. (1990) Ocular findings in primary hyperoxaluria.

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12.

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.

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13.

McDonald JC et al. (1989) Reversal by liver transplantation of the complications of primary hyperoxaluria as well as the metabolic defect.

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14.

Danpure CJ et al. (1987) Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity.

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15.

Danpure CJ et al. (1988) Prenatal exclusion of primary hyperoxaluria type 1.

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16.

Danpure CJ et al. (1989) An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria.

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17.

Danpure CJ et al. (1986) Mitochondrial damage and the subcellular distribution of 2-oxoglutarate:glyoxylate carboligase in normal human and rat liver and in the liver of a patient with primary hyperoxaluria type I.

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18.

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.

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19.

Baethge BA et al. (1988) Livedo reticularis and peripheral gangrene associated with primary hyperoxaluria.

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20.

Danpure CJ et al. (1986) Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.

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21.

Watts RW et al. (1985) Primary hyperoxaluria (type I): attempted treatment by combined hepatic and renal transplantation.

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22.

Yendt ER et al. (1985) Response to a physiologic dose of pyridoxine in type I primary hyperoxaluria.

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23.

Will EJ et al. (1979) Primary oxalosis: clinical and biochemical response to high-dose pyridoxine therapy.

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24.

Boquist L et al. (1973) Primary oxalosis.

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25.

Klauwers J et al. (1969) Failure of renal transplantation in primary oxalosis.

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26.

Bourke E et al. (1972) Primary hyperoxaluria with normal alpha-ketoglutarate: glyoxylate carboligase activity. Treatment with isocarboxazid.

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27.

Koch J et al. (1967) Deficiency of 2-oxo-glutarate: glyoxylate carboligase activity in primary hyperoxaluria.

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28.

Dent CE et al. (1970) Treatment of primary hyperoxaluria.

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29.

None (1970) [Heredity of familial oxalosis].

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30.

Coltart DJ et al. (1971) Primary oxalosis of the heart: a cause of heart block.

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31.

Williams HE et al. (1968) L-glyceric aciduria. A new genetic variant of primary hyperoxaluria.

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32.

Hockaday TD et al. (1965) The metabolic error in primary hyperoxaluria.

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33.

Massie BM et al. (1981) Primary oxalosis with pan-conduction cardiac disease: electrophysiologic and anatomic correlation.

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34.

Berger A et al. (1984) More on neuropathy from pyridoxine abuse.

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35.

Dennis AJ et al. (1980) Nitroglycerin as a remedy for peripheral vascular insufficiency associated with oxalosis.

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36.

Chesney RW et al. (1983) Renal failure with hypercalcemia, renal stones, multiple pathologic fractures, and growth failure.

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37.

O'Regan PF et al. (1980) Primary hyperoxaluria.

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38.

Morris MC et al. (1982) Oxalosis in infancy.

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39.

Milliner DS et al. (1994) Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria.

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40.

None (1993) Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase.

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41.

Danpure CJ et al. (1996) Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.

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42.

None (1998) Preemptive liver transplantation from a living related donor for primary hyperoxaluria type I.

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43.

Miyata N et al. (2014) Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1.

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44.

OMIM.ORG article

Omim 259900 [^]
45.

Wikipedia article

Wikipedia EN (Primary_hyperoxaluria) [^]
Update: April 29, 2019