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Aldh2 Deficiency Symptoms, Causes, Test, Treatment

   

Aldh2 is an enzyme which is present at two main sites of liver in human. Aldh is of 2 types depending upon its location. Aldh1 is cytosolic aldehyde dehydrogenase enzyme and aldh2 is mitochondrial dehydrogenase enzyme. About 30 to 40 percent of Asians living in East side are deficient in aldh2 enzyme and have only one enzyme i.e. aldh1. Aldh2 is an active enzyme against any foreign particle entered in body. But people deficient in aldh2 are less active against foreign toxins. The common example explains about acetaldehyde which enters the body due to alcohol consumption. Aldh2 detoxify acetaldehyde but people deficient in aldh2 cannot detoxify it and causes alcohol flush reaction.



Aldh2 Deficiency Symptoms


When we talk about a specific toxin named acetaldehyde which enters the body due to alcohol consumption, aldh2 is not available to break it down. So when acetaldehyde enters to the body, it stimulates the release of histamine, which causes following symptoms:

  • Patient feels headache for longer term. The pain is throbbing and pulsing. 
  • Patient feels tachycardia which means increased heart beat of patient than normal. 
  • Nausea occurs. Patient feels like vomiting but doesn't vomit. 
  • Due to increased level of histamine, the blood flow to the upper level capillaries increases and causes redness of skin. This condition is termed as erythema. 

Aldh2 Deficiency Symptoms, Causes, Test, Treatment

Aldh2 Deficiency Causes


The deficiency of aldh2 is a genetic problem in which the aldh2 Gene is responsible for aldh2 deficiency. Aldh2 Gene is responsible for creating a type of aldehyde dehydrogenase enzyme which is not good at detoxifying acetaldehyde (enters in body due to alcohol consumption). There is a geographical correlation between different regions in case of aldh2 deficiency. The aldh2 deficiency is most commonly reported in East Asia but it is also found in some specific regions of South Asia. It is studied that it commonly found in the region where rice are cultivated.

Aldh2 Deficiency Test


The symptoms appearing in the body are the easiest way of diagnosing aldh2 deficiency. People reported that they do not drink alcohol at all or are not at drinking age yet but still want to know about aldh2 deficiency. For that purpose there are some tests to diagnose the Gene mutation of aldh2. A simple DNA test is performed by taking blood samples. Via blood sample, the Gene deficiency can be easily seen. DNA test can also be performed by taking samples of saliva.

Aldh2 Deficiency Treatment


Some researchers in a well known University found out that a specific molecule named alda 89 is responsible for increasing the activity of aldh2 enzyme. But it is also reported that alda 89 is not safe to consume for human beings because of its toxicity. So there is another molecule named ALDA which helps in increasing the activity of aldh2 enzyme. Finally the treatment stretagies is based on the goal to diminish the toxicity of acetaldehyde by taking supplements. The supplements will help in lowering the toxicity of acetaldehyde and side by side help aldh2 enzyme to work properly.

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