Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
metabolic disorder |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:alsoKnownAs |
myoadenylate deaminase deficiency
|
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:enzymeDeficiency |
gptkb:AMP_deaminase
|
| gptkbp:firstDescribed |
1978
|
| https://www.w3.org/2000/01/rdf-schema#label |
AMP deaminase deficiency
|
| gptkbp:ICD-10_code |
E74.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
AMPD1 gene
|
| gptkbp:OMIM |
102770
|
| gptkbp:prevalence |
relatively common in Caucasians
|
| gptkbp:symptom |
exercise intolerance
muscle pain muscle weakness |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:AMPD
|
| gptkbp:bfsLayer |
7
|