Propionic aciduria (Q52781): Difference between revisions
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Revision as of 00:06, 14 August 2026
Propionic acidemia is an organic aciduria due to propionyl-CoA carboxylase deficiency characterised by onset of manifestations soon after birth including ketoacidotic coma, hyperammonemia and convulsions. Apart from acute metabolic decompensation, the major complications are neurological disorders (central grey nuclei), cardiomyopathies, and acute pancreatitis.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1618541953 |
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| English | Propionic aciduria |
Propionic acidemia is an organic aciduria due to propionyl-CoA carboxylase deficiency characterised by onset of manifestations soon after birth including ketoacidotic coma, hyperammonemia and convulsions. Apart from acute metabolic decompensation, the major complications are neurological disorders (central grey nuclei), cardiomyopathies, and acute pancreatitis. |
