adenosine monophosphate deaminase deficiency
Findings
No curated finding names adenosine monophosphate deaminase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue.
Definition from the Mondo Disease Ontology (MONDO:0013028), read 2026-09-29. CC BY 4.0.
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Exercise-induced muscle fatigueHPOHP:0009020
- Very frequent (80% to 99% of cases)
- Exercise-induced myalgiaHPOHP:0003738
- Very frequent (80% to 99% of cases)
- Limb muscle weaknessHPOHP:0003690
- Very frequent (80% to 99% of cases)
- Muscle spasmHPOHP:0003394
- Very frequent (80% to 99% of cases)
- MyalgiaHPOHP:0003326
- Very frequent (80% to 99% of cases)
Reported absent (2)
- Elevated creatine kinase after exerciseHPOHP:0008331
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
2 names
Resolves to: adenosine monophosphate deaminase deficiency
- Also called
- AMP deaminase deficiencymyoadenylate deaminase deficiency