Myoadenylate deaminase deficiency
Patients most commonly present with exercise-induced myalgias and weakness. This can be associated with rhabdomyolysis in some patients. Infantile hypotonia has been described as well.
Of note, mAMPD deficiency is most commonly found in individuals of Northern European descent, and the estimated frequency of the most common mutant AMPD1 allele is 11%-14% among that population.
E79.2 – Myoadenylate deaminase deficiency
9105005 – Muscle adenosine monophosphate deaminase deficiency
Differential Diagnosis & Pitfalls