Adenosine monophosphate deaminase deficiency type 1 information
Medical condition
Adenosine monophosphate deaminase deficiency type 1
Other names
Myoadenylate deaminase deficiency
Adenosine monophosphate
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).
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has been changed from cytosine ("C") to thymine ("T") on both strands of Chromosome 1 – in other words, "C;C" has been replaced by "T;T".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]
^"Metabolic Diseases of Muscle - Myoadenylate deaminase deficiency | Muscular Dystrophy Association". Muscular Dystrophy Association. 18 December 2015. Retrieved 10 June 2017.
^ abSNPedia, 2019, rs17602729 (23 October 2021).
^ abc"Adenosine monophosphate deaminase deficiency". Genetics Home Reference. United States National Library of Medicine. July 2008.
and 15 Related for: Adenosine monophosphate deaminase deficiency type 1 information
Adenosinemonophosphatedeaminasedeficiencytype1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase...
AMP deaminase1 is an enzyme that in humans is encoded by the AMPD1 gene. Adenosinemonophosphatedeaminase is an enzyme that converts adenosine monophosphate...
purine nucleotide cycle, three nucleotides: AMP (adenosinemonophosphate), IMP (inosine monophosphate), and S-AMP (adenylosuccinate) are converted in a...
result, give rise to several types of diseases. Some of the diseases are: Severe immunodeficiency by loss of adenosinedeaminase. Hyperuricemia and Lesch–Nyhan...
lymphocytic leukaemia are types of B cell blood cancers. Ernest Beutler and Dennis A. Carson had studied adenosinedeaminasedeficiency and recognised that...
replication. Thymidylate synthase methylates deoxyuridine monophosphate (dUMP) to form thymidine monophosphate (dTMP). Administration of 5-FU causes a scarcity...
immunological memory. This immunological disorder results from a deficiency in adenosinedeaminase activity, which causes a buildup of dATP. These dATP molecules...
pathways. One route is through the deamination by the enzyme guanine deaminase to 6-thioxanthine, which has minimal anti-neoplastic activity, then by...
guanine for the enzyme HGPRT and is itself converted to thio inosine monophosphate (TIMP). TIMP inhibits several chemical reactions involving inosinic...
compound. Deficiency in human tRNA methylthiotransferase eMtaB has been shown to be responsible for abnormal insulin synthesis and predisposition to type 2 diabetes...
Global Information