Belgian Genetic Tests database
3-methylglutaconic aciduria type 1
| Name: |
3-methylglutaconic aciduria type 1
|
| Description: |
3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.
|
| ORPHAcode: |
67046
|
| Synonyms: |
3-methylglutaconyl-CoA hydratase deficiency
3MG-CoA hydratase deficiency
MGA1
|
| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
|
| Changed: |
22 Jun 2023 - 16:14
|