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Primary hyperoxaluria |
D-glycerate dehydrogenase deficiency; glyceric aciduria; glycolic aciduria; hepatic AGT deficiency; HP1; HP2; Hyperoxaluria, Primary; Oxalosis; Oxaluria, Primary; peroxisomal alanine:glyoxylate aminotransferase deficiency |
Primary hyperoxaluria is a rare condition characterized by the overproduction of a substance called oxalate (or oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria is caused by the shortage (deficiency) of an enzyme that normally prevents the buildup of oxalate. There are two types of primary hyperoxaluria, distinguished by the enzyme that is deficient. People with type 1 primary hyperoxaluria have a shortage of a liver enzyme called alanine-glyoxylate aminotransferase (AGXT). Type 2 primary hyperoxaluria is characterized by a shortage of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR).
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Primary hyperoxaluria Other1 of 1
Primary hyperoxaluria
... Primary hyperoxaluria is a rare condition characterized by the overproduction of a substance called oxalate (or oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium o...
Source: Genetics Home Reference
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Primary hyperoxaluria Articles
- Primary hyperoxaluria
... Primary hyperoxaluria is a rare condition characterized by the overproduction of a substance called oxalate (or oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium o...
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