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Myoadenylate deaminase deficiency
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Myoadenylate deaminase deficiency

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Contributors: Bo Hoon Lee MD, Richard L. Barbano MD, PhD
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Synopsis

Myoadenylate deaminase deficiency : Muscle weakness, Muscle cramp, Myalgia
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.

Codes

ICD10CM:
E79.2 – Myoadenylate deaminase deficiency

SNOMEDCT:
9105005 – Muscle adenosine monophosphate deaminase deficiency

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Due to its high incidence in the individuals of Northern European descent, interpretation can be difficult when it is found coincidentally in the setting of other neuromuscular or rheumatologic conditions. It is proposed that it acts synergistically with mutations in other genes to promote myopathic symptoms.

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References

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Last Reviewed:09/10/2018
Last Updated:01/19/2022
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Myoadenylate deaminase deficiency
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A medical illustration showing key findings of Myoadenylate deaminase deficiency : Muscle weakness, Muscle cramp, Myalgia
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