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| Myoadenylate deaminase deficiency ： ウィキペディア英語版 |
Adenosine monophosphate deaminase deficiency type 1
Adenosine monophosphate deaminase deficiency type 1, also called myoadenylate deaminase deficiency (MADD), is a recessive genetic metabolic disorder that affects approximately 1–2% of populations of European descent. It appears to be considerably rarer in Asian populations.〔 The genetic form is caused by a defect in the gene for AMP deaminase〔 though there is also an acquired form of AMP deficiency.
==Causes==
AMP deaminase is an enzyme that converts adenosine monophosphate (AMP) to inosine monophosphate (IMP), freeing an ammonia molecule in the process. It is a part of the metabolic process that converts sugar, fat, and protein into cellular energy. In order to use energy, a cell converts one of the above fuels into adenosine triphosphate (ATP) via the mitochondria. Cellular processes, especially muscles, then convert the ATP into adenosine diphosphate (ADP), freeing the energy to do work.
During heavy or prolonged mild to moderate activity, other enzymes convert two molecules of ADP into one ATP molecule and one AMP molecule, making more ATP available to supply energy. AMP is normally converted into IMP by myoadenylate deaminase—so myoadenylate deaminase deficiency reduces energy that would be available to the cell through the purine nucleotide cycle. Instead of being converted to IMP, the AMP builds up in the cells of affected individuals, spills into the blood, and is eventually metabolized in the liver. In persons with a defective enzyme, 5'-nucleotidase removes the ribose and phosphorus from AMP, increasing levels of cellular and circulating adenosine by 16–25×.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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