What Is Primary Hyperoxaluria Type 2?
Source: Genetic and Rare Diseases (GARD) Information Center
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Primary Hyperoxaluria Type 2
HP2; Oxalosis 2; Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency; Glyceric Aciduria; D-Glycerate Dehydrogenase Deficiency
Primary hyperoxaluria type 2 is a rare condition characterized by recurrent kidney and bladder stones and it often results in end stage renal disease (ESRD). Symptom onset may occur in childhood or adolescence. Explore symptoms, causes and genetics of this condition.
Left Health Kidney, Right Kidney stone (Not to scale)
Image by Kidney TheVisualMD, Kidney stone Михајло Анђелковић
Oxalic acid, anhydrous
Image by Leiem/Wikimedia
Source: Genetic and Rare Diseases (GARD) Information Center
Glyoxylate Reductase Hydroxypyruvate Reductase
Image by adiazdearce/Wikimedia
Source: Genetic and Rare Diseases (GARD) Information Center
Ideogram of human chromosome 9
Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.
The GRHPR gene provides instructions for making an enzyme called glyoxylate and hydroxypyruvate reductase. This enzyme plays a role in preventing the buildup of a potentially harmful substance called glyoxylate by converting it to a substance called glycolate, which is easily excreted from the body. Additionally, this enzyme can convert a compound called hydroxypyruvate to D-glycerate, which is eventually converted to the simple sugar glucose (by other enzymes) and used for energy.
More than 25 mutations in the GRHPR gene have been found to cause primary hyperoxaluria type 2. This condition is caused by the overproduction of a substance called oxalate. Excess amounts of this substance lead to kidney and bladder stones, which begin in childhood and often result in kidney disease by early adulthood. Deposition of oxalate in multiple other tissues throughout the body (systemic oxalosis) can cause additional health problems.
GRHPR gene mutations either disrupt production of the glyoxylate and hydroxypyruvate reductase enzyme or alter its structure. As a result, enzyme activity is absent or severely reduced and the conversion of glyoxylate to glycolate is impaired. Glyoxylate builds up and is converted to a compound called oxalate. The oxalate is filtered through the kidneys and is either excreted in urine as a waste product or combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Increased oxalate levels in the blood can lead to systemic oxalosis, particularly affecting bones and the walls of blood vessels in people with primary hyperoxaluria type 2.
Source: MedlinePlus Genetics
Newborn autosomal recessive pattern of inheritance
Image by Thomas Shafee and TheVisualMD
Source: Genetic and Rare Diseases (GARD) Information Center
Kidney with Kidney Stone
Image by TheVisualMD
Source: Genetic and Rare Diseases (GARD) Information Center
Water At Work
Image by TheVisualMD
Source: Genetic and Rare Diseases (GARD) Information Center
Prognosis Icon
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Source: Genetic and Rare Diseases (GARD) Information Center
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