Disorders of glyoxylate metabolism (Q40061)
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Primary hyperoxaluria, or oxalosis, is a rare metabolic disorder transmitted as an autosomal recessive disease, including both type 1, the most frequent, and type 2, extremely rare. Hyperoxaluria type 1 is due to a defect of the peroxysomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Hyperoxaluria type 2 is extremely rare and is due to glycerate dehydrogenase deficiency.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C51.2 |
||
| English | Disorders of glyoxylate metabolism |
Primary hyperoxaluria, or oxalosis, is a rare metabolic disorder transmitted as an autosomal recessive disease, including both type 1, the most frequent, and type 2, extremely rare. Hyperoxaluria type 1 is due to a defect of the peroxysomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Hyperoxaluria type 2 is extremely rare and is due to glycerate dehydrogenase deficiency. |
Statements
CID11:5C51.2
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dki-india-5C51.2
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Concluído
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13 August 2026
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