triosephosphate isomerase deficiency
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
inborn error of metabolism |
| gptkbp:affects |
glycolysis
|
| 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 |
615512
|
| gptkbp:otherName |
gptkb:TPI_D
gptkb:TPI_deficiency |
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
gptkb:anemia
muscle weakness neurological dysfunction |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:triose_phosphate_isomerase
|
| gptkbp:bfsLayer |
7
|