Propionic aciduria (Q52781): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A acidemia propiônica é uma acidúria orgânica devido à deficiência de propionil-CoA carboxilase caracterizada pelo início de manifestações logo após o nascimento, incluindo coma cetoacidótico, hiperamonemia e convulsões. Além da descompensação metabólica aguda, as principais complicações são distúrbios neurológicos (núcleos cinzentos centrais), cardiomiopatias e pancreatite aguda. | |||
| description / en | description / en | ||
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. | |||
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 |
|---|---|---|---|
| default for all languages | ID_1618541953 |
||
| 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. |
