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Adenosine monophosphate deaminase deficiency type 1
Medical condition / From Wikipedia, the free encyclopedia
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Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase,[1] in sufficient quantities. This may result in exercise intolerance, muscle pain and muscle cramping. The disease was formerly known as myoadenylate deaminase deficiency (MADD).
Adenosine monophosphate deaminase deficiency type 1 | |
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Other names | Myoadenylate deaminase deficiency |
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Adenosine monophosphate |
In virtually all cases, the deficiency has been caused by an SNP mutation, known as rs17602729 or C34T. While it was initially regarded as a recessive (or purely homozygous) disorder, some researchers have reported the existence of similarly deleterious effects from the heterozygous form of the SNP.[2] In the homozygous form of the mutation, a single genetic base (character) has been changed from cytosine ("C") to thymine ("T") on both strands of Chromosome 1 – in other words, "C;C" has been replaced by "T;T". A rarer but analogous condition, in which two guanine bases ("G;G") bases (in the unmutated form) have been changed to adenine ("A;A") has also been identified. While there has been no consensus on the effects of the heterozygous form – either "C;T" or "A;G" – some evidence has been found that it too has caused AMPD1 deficiency.[2] In addition, some sources have suggested the existence of a rare, acquired form of AMPD1 deficiency.[citation needed]
AMPD1 deficiency is caused by a defect in the mechanism for production of AMP deaminase – an enzyme that converts adenosine monophosphate (AMP) to inosine monophosphate (IMP).[3] While the deficiency affects approximately 1–2% of people in populations of predominantly European descent,[3] the disorder appears to be considerably rarer in Asian populations.[3]