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Doctor insights on: Alpha Galactosidase Deficiency

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Could you explain what is alpha 1antitripsin deficiency?

Could you explain what is alpha 1antitripsin deficiency?

Enzyme: Deficiency is a condition in which the body does not make enough of a protein that protects the lungs and liver from damage. The condition can lead to emphysema and liver disease. ...Read more

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Can you tell me the effects of alpha one antitrypsin deficiency and is it safe for people with it to take drugs?

Can you tell me the effects of alpha one antitrypsin deficiency and is it safe for people with it to take drugs?

Emphysema: Individuals with anti Alpha 1 deficiency are more prone to the environmental oxidative factors such as polution, smoking, etc therefore they get emphysema eventually especially if they smoke. Logically these individuals could get lung/liver damage if take medications which are inceasing oxidative status. Shahzeidi, md. ...Read more

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What is alpha 1 antitrypsin deficiency?

What is alpha 1 antitrypsin deficiency?

Genetic disease: It's quite variable in severity. The lack of the helpful antitrypsin protein in the blood prevents the neutralization of enzymes from white cells that tend to decrease the elasticity of the lungs. The enzyme itself accumulates in the liver which can't get it into the circulation and this can ruin the liver. This can happen at any age and no one knows why it varies so much; or the liver may be fine. ...Read more

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What are characterists of alpha-1 antitrypsin deficiency?

What are characterists of alpha-1 antitrypsin deficiency?

Early emphysema: Early onset emphysema, especially in a non-smoker, is most common characterisitic of Alpha 1 at deficiency, other abnormalities include early onset liver disease. ...Read more

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Diagnosis: Choline deficiency. I ordered Alpha GPC to supplement. How long should it take to feel a difference in cognition?

Diagnosis: Choline deficiency. I ordered Alpha GPC to supplement. How long should it take to feel a difference in cognition?

Who diagnosed it?: Who diagnosed this? And how? What are your other symptoms? What is the cause of the choline deficiency? Testing for choline deficiency is not routinely done outside of research institutions. We need to know how the diagnosis was made, please. Ask again and give more information. keep it short and sweet, there is a 150 character limit to questions, inc. punctuation and spaces. ...Read more

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What are alpha-1 antitrypsin deficiency tests like?

What are alpha-1 antitrypsin deficiency tests like?

Blood test: Blood, more accurately serum, is examined for levels of Alpha 1 at. Electophoresis of serum also reveals deficiency and a detailed electrophoresis, iso-electric focusing, provides details of the abnormal protein. Dna also can be tested to ascertain the abnormality in the gene. ...Read more

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What sort of problem is alpha-1 antitrypsin deficiency?

What sort of problem is alpha-1 antitrypsin deficiency?

Genetic, familial: Genetic abnormality that can run in families, associated with emphysema, even without the usual triggers like tobacco use, and cirrhosis of the liver, even in the absence of triggers like chronic infection, alcohol use. Can cause problems in children and/or in adults. Can be tested for, can be rx'd. ...Read more

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What are the symptoms of alpha 1 antitrypsin deficiency?

What are the symptoms of alpha 1 antitrypsin deficiency?

Emphysema: Aat deficiency affects primarily the lungs, leading to copd, particularly a panacinar emphysema. Symptoms are variable, but usually involve shortness of breath on exertion, cough, or wheezing. It can also affect the liver, causing chronic hepatitis, cirrhosis, and hepatocellular carcinoma. Necrotizing panniculitis is a rare clinical manifestation involving the skin. ...Read more

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What are the symptoms of alpha-1 antitrypsin deficiency?

What are the symptoms of alpha-1 antitrypsin deficiency?

Early emphysema: Lung and liver are the target organs in Alpha 1 at deficiency. Children may develop liver disease like cirrhosis. The commonest symptoms are due to early development of emphysema, e.g., shortness of breath, barrel chest, and later heart failure. ...Read more