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

More general terms

• enzyme deficiency

Database

• OMIM: https://mirror.omim.org/entry/102770