Disorders of glyoxylate metabolism (Q40061): Difference between revisions
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Hiperoxalúria primária ou oxalose, é um transtorno metabólico raro, transmitido como uma doença autossômica recessiva ,subdividida em 2 tipos: tipo 1 que é mais frequente e tipo 2, que é extremamente rara. A hiperoxalúria tipo 1 é devido a um defeito numa enzima hepática peroxissomal alanina glioxilato aminotransferase. A hiperoxalúria tipo 2 é extremamente rara e é devida a deficiência de glicerato desidroginase. | |||
| description / en | description / en | ||
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. | |||
Revision as of 05:43, 13 August 2026
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 |
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| 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. |
