Myoadenylate deaminase (mAMPD) deficiency is an autosomal recessive metabolic myopathy caused by mutations in the AMPD1 gene, which encodes mAMPD. This results in a defect in the ability to process the major energy molecule of the cell, adenosine triphosphate (ATP).
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.
Myoadenylate deaminase deficiency
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Synopsis
Codes
ICD10CM:
E79.2 – Myoadenylate deaminase deficiency
SNOMEDCT:
9105005 – Muscle adenosine monophosphate deaminase deficiency
E79.2 – Myoadenylate deaminase deficiency
SNOMEDCT:
9105005 – Muscle adenosine monophosphate deaminase deficiency
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Differential Diagnosis & Pitfalls
- McArdle disease
- Carnitine deficiency
- Carnitine palmitoyltransferase deficiency
- Other metabolic myopathies
- Polymyositis
- Hyperkalemic periodic paralysis
- Hypokalemic periodic paralysis
- Hypothyroidism
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Last Reviewed:09/10/2018
Last Updated:01/19/2022
Last Updated:01/19/2022