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GTR Home > Conditions/Phenotypes > Muscle AMP deaminase deficiency

Muscle AMP deaminase deficiency

Synonyms
ADENOSINE MONOPHOSPHATE DEAMINASE-1 DEFICIENCY, MYOPATHY DUE TO; AMP deaminase 1 deficiency; AMPD1 DEFICIENCY; Adenosine Monophosphate Deaminase 1; Adenosine monophosphate deaminase 1 deficiency; Myoadenylate deaminase deficiency; Myoadenylate deaminase deficiency, myopathy due to

Summary

Myoadenylate deaminase deficiency (MMDD) is an autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia. However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., Verzijl et al., 1998) that AMPD1 deficiency may be a harmless entity (summary by Castro-Gago et al., 2011). Genetta et al. (2001) stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent (Sabina et al., 1989). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to Genetta et al. (2001). [from OMIM]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 available)

Molecular Genetics Tests

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  • Also known as: MAD, MADA, MMDD, AMPD1
    Summary: adenosine monophosphate deaminase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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