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Primary hyperoxaluria

Index Primary hyperoxaluria

Primary hyperoxaluria is a rare condition (autosomal recessive), resulting in increased excretion of oxalate (up to 600mg a day from normal 50mg a day), with oxalate stones being common. [1]

13 relations: AGXT, Anemia, DHDPSL, Dominance (genetics), GRHPR, Hyperoxaluria, Kidney failure, Kidney stone disease, Kidney transplantation, Liver transplantation, Online Mendelian Inheritance in Man, Oxalate, Thrombocytopenia.

AGXT

Serine—pyruvate aminotransferase is an enzyme that in humans is encoded by the AGXT gene.

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Anemia

Anemia is a decrease in the total amount of red blood cells (RBCs) or hemoglobin in the blood, or a lowered ability of the blood to carry oxygen.

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DHDPSL

DHDPSL is a human gene.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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GRHPR

Glyoxylate reductase/hydroxypyruvate reductase is an enzyme that in humans is encoded by the GRHPR gene.

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Hyperoxaluria

Hyperoxaluria is an excessive urinary excretion of oxalate.

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Kidney failure

Kidney failure, also known as end-stage kidney disease, is a medical condition in which the kidneys no longer work.

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Kidney stone disease

Kidney stone disease, also known as urolithiasis, is when a solid piece of material (kidney stone) occurs in the urinary tract.

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Kidney transplantation

Kidney transplantation or renal transplantation is the organ transplant of a kidney into a patient with end-stage renal disease.

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Liver transplantation

Liver transplantation or hepatic transplantation is the replacement of a diseased liver with the healthy liver from another person (allograft).

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Online Mendelian Inheritance in Man

Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship.

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Oxalate

Oxalate (IUPAC: ethanedioate) is the dianion with the formula, also written.

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Thrombocytopenia

Thrombocytopenia is a condition characterized by abnormally low levels of thrombocytes, also known as platelets, in the blood.

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Redirects here:

Alanine-gloxylate aminotransferase (hepatic) deficiency, Glycolic aciduria, Hydroxycarboxylic aciduria, Hyperoxaluria type 1, Hyperoxaluria, primary, Oxalosis, Oxalosis type 1, Oxalosis, primary type 1.

References

[1] https://en.wikipedia.org/wiki/Primary_hyperoxaluria

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