Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
metabolic myopathy |
| gptkbp:affects |
lactate dehydrogenase A enzyme
|
| gptkbp:causedBy |
mutations in the LDHA gene
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1980
|
| https://www.w3.org/2000/01/rdf-schema#label |
LDHA deficiency
|
| gptkbp:inheritsFrom |
autosomal recessive
|
| gptkbp:OMIM |
612933
|
| gptkbp:otherName |
GSD11
glycogen storage disease XI |
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
exercise intolerance
muscle pain muscle weakness myoglobinuria |
| gptkbp:treatment |
supportive care
avoidance of strenuous exercise |
| gptkbp:bfsParent |
gptkb:LDHA
gptkb:P00338_(human_LDHA) |
| gptkbp:bfsLayer |
7
|