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AMP deaminase deficiency
Epidemiology:
- one of the most common inherited defects in the Caucasians, but not in Asians
Genetics:
- associated with defects in AMPD1 gene
Clinical manifestations:
- exercise-related myopathy characterized by muscle aches, cramps, & early fatigue
Laboratory:
- AMPD1 gene mutation
General
enzyme deficiency
Database Correlations
OMIM 102770
MORBIDMAP 102770
References
OMIM :accession 102770