Primary hyperoxaluria type 2 (Q87049): Difference between revisions
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13 August 2026
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Latest revision as of 12:37, 15 August 2026
Primary hyperoxaluria type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase. It is characterised by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_347920969 |
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| English | Primary hyperoxaluria type 2 |
Primary hyperoxaluria type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase. It is characterised by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. |
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CID11:ID_347920969
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dki-india-ID_347920969
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Concluído
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13 August 2026
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