Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
rare disease inborn error of metabolism |
| gptkbp:affects |
glycolysis
|
| gptkbp:deficientEnzyme |
gptkb:triosephosphate_isomerase
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1965
|
| https://www.w3.org/2000/01/rdf-schema#label |
TPI deficiency
|
| gptkbp:ICD-10_code |
E74.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:TPI1_gene
|
| gptkbp:OMIM |
615512
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
gptkb:anemia
fatigue muscle weakness developmental delay cardiorespiratory complications progressive neuromuscular impairment |
| gptkbp:synonym |
gptkb:TPI_D
gptkb:Triosephosphate_isomerase_deficiency |
| gptkbp:treatment |
supportive care
physical therapy blood transfusion |
| gptkbp:bfsParent |
gptkb:triosephosphate_isomerase_deficiency
|
| gptkbp:bfsLayer |
8
|