Send to

Choose Destination
See comment in PubMed Commons below
Neurol Clin. 2000 Feb;18(1):185-94.

Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation.

Author information

Associate Professor, Department of Biochemistry, Medical College of Wisconsin, Milwaukee 53226, USA.


Myoadenylate deaminase deficiency is a clinically heterogeneous metabolic disorder that is commonly diagnosed in a variety of neurologic settings. Although the molecular basis for this purine nucleotide catabolic derangement may typically be attributed to the inheritance of a single prevalent mutant allele, the clinical spectrum in the absence of other definable abnormalities can range from asymptomatic to mild exercise-induced myalgia. Moreover, myoadenylate deaminase deficiency is also found associated with other definable neuromuscular disorders. The myoadenylate deaminase deficiency in these latter cases may, in part, be precipitated by pathologic change or act synergistically in combination with another metabolic disease.

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center