The diagnosis of MADD needs to be considered in patients suffering exercise induced myalgia, cramps and sometimes weakness. A mildly elevated creatine kinase may also occur. Exclusion of other muscular diseases such as McArdle's Disease and carnitine cycle abnormalities should occur. MADD may be identified if there is a lack of ammonia rise after forearm exercise testing. The diagnosis may then be confirmed with genetic testing.
Adenosine monophosphate deaminase deficiency type 1
Adenosine deaminase 2 deficiency
Adenosine deaminase deficiency
Galactose-1-phosphate uridylyltransferase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Ornithine aminotransferase deficiency
Ribose-5-phosphate isomerase deficiency
Adenine phosphoribosyltransferase deficiency