Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
metabolic disorder |
| gptkbp:affects |
citric acid cycle
fumarase enzyme |
| gptkbp:cause |
gptkb:encephalopathy
hypotonia seizures failure to thrive developmental delay dystonia microcephaly severe neurological impairment fumaric aciduria |
| gptkbp:causedBy |
mutation in FH gene
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay urine organic acid analysis |
| gptkbp:firstDescribed |
1990
|
| https://www.w3.org/2000/01/rdf-schema#label |
fumarase deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
fumarase enzyme
|
| gptkbp:OMIM |
606812
|
| gptkbp:otherName |
fumaric aciduria
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Fumarase
|
| gptkbp:bfsLayer |
7
|