Triosephosphate isomerase deficiency
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
metabolic disorder |
| gptkbp:affects |
glycolysis
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:enzymeDeficiency |
gptkb:triosephosphate_isomerase
|
| gptkbp:firstDescribed |
1965
|
| https://www.w3.org/2000/01/rdf-schema#label |
Triosephosphate isomerase deficiency
|
| gptkbp:ICD-10_code |
E74.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:TPI1_gene
|
| gptkbp:OMIM |
190450
|
| gptkbp:prevalence |
very rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
gptkb:anemia
muscle weakness neurological dysfunction cardiorespiratory complications |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:P60174
gptkb:TPI1 |
| gptkbp:bfsLayer |
8
|