Adenosine monophosphate deaminase deficiency type 1

Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase, in sufficient quantities. This may result in exercise intolerance, muscle pain and muscle cramping. The disease was formerly known as myoadenylate deaminase deficiency or MADD. While it is usually a recessive genetic disorder, there is also a rarer, acquired form of AMP deficiency.

Adenosine monophosphate deaminase deficiency type 1

Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase, in sufficient quantities. This may result in exercise intolerance, muscle pain and muscle cramping. The disease was formerly known as myoadenylate deaminase deficiency or MADD. While it is usually a recessive genetic disorder, there is also a rarer, acquired form of AMP deficiency.