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Doctor insights on: Alpha Galactosidase Deficiency

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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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Is pyruvate dehydrogenase deficiency heritable?

Is pyruvate dehydrogenase deficiency heritable?

Yes.: In the most common situation it is inherited in an x-linked pattern, affecting hemizygous males (with one x chromosome) and heterozygous females (two x chromosomes, one with mutation). Less commonly it is inherited in an autosomal recessive pattern, in which a mutation must be provided by both the mother and the father of the affected person. ...Read more

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Could alpha-1 antitrypsin deficiency couse emphysema ?

Could alpha-1 antitrypsin deficiency couse emphysema ?

YES: Alpha one deficiency is highly assosciated with the development of emphysema. ...Read more

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What's pyruvate dehydrogenase deficiency?

Pyruvate: Please go online to Wikipedia and look for pyruvate dehydrogenase deficiency. Not easy reading but important. If that is what you have it can be controlled to some extent. Take your time reading the article(s) and then discuss with your doctor. ...Read more

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Can alpha thalassemia be dominant?

Can alpha thalassemia be dominant?

Not quite: People normally have 4 Alpha globulin genes. A mutation in 1, 2, 3, or all 4 genes leads to the 4 levels of Alpha thalassemia. The genetics of the disorder is not all-or-none, not dominant-recessive. Instead, the more mutations, the worse the disease. One mutation = silent carrier (no symptoms), 2 muta. = Alpha trait (mild symptoms), 3 muta. = HGB h (moderate symptoms), 4 muta. = bart's (deaths). ...Read more

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Does alpha thalassemia causes leukemia?

Does alpha thalassemia causes leukemia?

No: Alpha and beta thalassemia have not been reported to cause leukemia, which is cancer of the white blood cells. There is a study of beta thal. Major & intermedia patients in iran, where researchers found 5 leukemia cases in about 4, 600 patients. That is a higher rate of leukemia than in the general population there, but details were unavailable as to what other factors were present in the patients. ...Read more

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Is cdp choline, magnesium, acetyl L-carnitine and lipoic acid MAO inhibitors?

Is cdp choline, magnesium, acetyl L-carnitine and lipoic acid MAO inhibitors?

NO: In general, MAO inhibitors refer to specific prescription antidepressant drugs & are highly regulated. Many foods & herbs have mild MAO inhibiting actions, such as carrots, chocolate, coffee, ginger, grape & onions,but these effects are not clinically significant & they don't need to be avoided if on a med that interacts with MAO inhibitors: http://www.botanical-online.com/english/vegetalmaois.htm ...Read more

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What causes pyruvate dehydrogenase complex deficiency?

What causes pyruvate dehydrogenase complex deficiency?

Mitochondrial diseas: A very rare genetic disorder which leads to neurodegeneration. Presenting in infancy or later childhood, the earlier presentation is usually more severe. Those who develop symtpoms later in childhood may survive into adulthood. ...Read more

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List alpha lipoic acid capsules ?

List alpha lipoic acid capsules ?

List?: I'm not sure what you mean by your question? There are all kinds of lipoic acid capsules, made by many different companies. For a good review of some that are independently tested, check https://www.Consumerlab.Com/reviews/alpha-lipoic_acid_supplements/alphalipoic/ you may need to subscribe, but $33/year is worth it since you get reviews of many products, not just this one. Good luck. ...Read more

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Is omega 3 deficiency and vitamin a deficiency genetic?

Is omega 3 deficiency and vitamin a deficiency genetic?

Vitamin deficiency: Not usually. Vitamin deficiencies are usually due to dietary deficiencies, but rarely can be related to problems absorbing nutrients. That may be due to a genetic defect. ...Read more

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Iron deficiency anemia wid calcium deficiency?

Iron deficiency anemia wid calcium deficiency?

Fe -Ca: Ida is common in young menstruating females. Calcium deficiency? Quite odd at any age. Wonder if your Albumin is normal giving a falsely low calcium.... Why would anyone check a calcium in a healthy 18 yo? Maybe there is more to this story. Maybe you should talk to doc who drew your labs. ...Read more

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Is high RBC folate (folic acid) associated with vitamin B12 deficiency?

Is high RBC folate (folic acid) associated with vitamin B12 deficiency?

Not likely: Please consult this site for info in this topic. Folate (folic acid) and B12 are needed for efficient red cell production and other functions, but lack of one does not increase the other. http://www.webmd.com/diet/folic-acid. ...Read more

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Can autoantibodies against glutamine synthetase and/or glutamate dehydrogenase cause glutamate metabolism disorders?

Can autoantibodies against glutamine synthetase and/or glutamate dehydrogenase cause glutamate metabolism disorders?

Still searching: Glutamine synthase is part of the glutamine synthetase family. Ammonia incorporation in animals occurs through the actions of glutamate dehydrogenase and glutamine synthase. Glutamate plays the central role in mammalian nitrogen flow, serving as both a nitrogen donor and nitrogen acceptor. I am unble to find references in my search so far as to autoantibodies to these but see comment. ...Read more

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Hello docs, is alpha-1 antitrypsin deficiency life-threatening?

Hello docs, is alpha-1 antitrypsin deficiency life-threatening?

Yes: With some variation, the form presenting in childhood can lead to liver failure and death if a liver transplant is not available. The chronic lung issues are disabling for some. ...Read more

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Why we treat megaloblastic anemia caused by vitamin B12 deficiency with folates (folic acid)?

Why we treat megaloblastic anemia caused by vitamin B12 deficiency with folates (folic acid)?

We don't: Megaloblastic anemia caused by B12 deficiency is treated with b12. Folate (folic acid) deficiency also causes meg. Anemia. Some with B12 deficiency are also deficient in b12, but if one has low B12 ; isn't deficient in folate (folic acid) there's no need to supplement with it. But it won't hurt to take folate (folic acid);if you're among the 1/3 of people with problems converting Folic Acid to it's active form you should take l-5-mthf. ...Read more

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Does alpha thalassemia trait have gene therapy available?

Does alpha thalassemia trait have gene therapy available?

No: Alpha thalassemia trait only causes mild anemia, and the person usually has no symptoms. Gene therapy is not available and would not be needed. ...Read more

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How vit cyanoCObalamine deficiency causes megaloblastic anemia?

How vit cyanoCObalamine deficiency causes megaloblastic anemia?

B12: You need this vitamin to synthesize DNA (T's from U's). If you can't do this, the nuclear growth can't keep up with the cytoplasm and the red cells end up bigger before they can be released. Hence "megalo-". ...Read more

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Will a folate (folic acid) deficiency lead to a vitamin B12 deficiency?

No: Many people on self-imposed restrictive vegetarian diets get both. They have similar effects on the blood and are both very serious health problems. ...Read more

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Best diet for someone with Alpha 1 antitrypsins deficiency?

Best diet for someone with Alpha 1 antitrypsins deficiency?

Simply healthy: Hi AMonroe, The good news is that you don't any specific diet restrictions. Aim to stay in a healthy weight range with a BMI of 20-25. Choose fresh foods, eat plenty of vegetables and moderate amounts of fruits. The majority of your nutrient breakdown should be protein and carbs. Fats should be more omega-3s if possible. Stay active, sleep well. Hope this helps. ...Read more

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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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Best diet for someone with Alpha 1 antitrypsins deficiency?

Simply healthy: Hi AMonroe, The good news is that you don't any specific diet restrictions. Aim to stay in a healthy weight range with a BMI of 20-25. Choose fresh foods, eat plenty of vegetables and moderate amounts of fruits. The majority of your nutrient breakdown should be protein and carbs. Fats should be more omega-3s if possible. Stay active, sleep well. Hope this helps. ...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?

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

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Please tell me the characterists of alpha-1 antitrypsin deficiency?

Please tell me the characterists of alpha-1 antitrypsin deficiency?

Shortness of breath: Alpha 1 antitrypsin (aat) is a molecule in the blood and alveolar space. This naturally occuring molecule is protecting alveolar walls from breaking by trypsin which is also naturally occuring molecule during lipid metabolism of the cells. Trypsin is causing oxidative damage to the cells and needs to be scavenged. Aat deficiency is a genetic disorder with abnormal production of the aat molecule. ...Read more

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What is the treatment for alpha-1 antitrypsin deficiency?

AAT deficiency: Standard therapy (of questionable efficacy) involves intravenous or aerosolized augmentation therapy. Some experimental treatments include enhancement of endogenous alpha-1 antitrypsin production and gene therapy. Supportive therapy is important as well and includes smoking cessation, prompt treatment of lower respiratory infections, and getting influenza and pneumococcal vaccinations. ...Read more

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Could alpha-1 antitrypsin deficiency couse emphysema ?

YES: Alpha one deficiency is highly assosciated with the development of emphysema. ...Read more

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What is alpha-1 antitrypsin deficiency and what do I do about it?

What is alpha-1 antitrypsin deficiency and what do I do about it?

Genetic problem: Because of this gene mutation, body becomes deficient in Alpha -1 - antitrypsin protein and manifests as chronic lung disease, just like in COPD pts but affects a younger population and affects the bases of the lung more than the apices.. Fortunately it is available to take on a daily basis to bring the levels of a1at within 'normal' range. ...Read more

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If my grandmother had alpha-1 antitrypsin deficiency, should I be tested?

If my grandmother had alpha-1 antitrypsin deficiency, should I be tested?

Maybe: If one has a family history of homozygous alpha1antitrypsin deficiency, then one should consider testing, as even a carrier of this, especially one with the mz phenotype, may develop lung or liver diseases, in rare cases.If found to be a carrier, one should avoid tobacco, lung pollutants, and alcohol;and one should be vaccinated for hepatitis a and b.For more info, go to alpha1foundation, www.Alphaone.Org, . ...Read more

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What is the definition or description of: Alpha 1 antitrypsin deficiency?

What is the definition or description of: Alpha 1 antitrypsin deficiency?

Lack of alpha-1 AT: Trypsin is a protein (an enzyme) that the body uses to remove damaged/"unwanted" proteins. This protein needs to attack the right targets specifically but not nearby healthy necessary proteins. To help keep trypsin under control, another group of proteins have developed. Alpha-1 antitrypsin (alpha-1 AT) is a very important one. If a person is deficient, they tend to get emphysema at an early age. ...Read more

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My grandmother had alpha-1 antitrypsin deficiency, should I be tested for it?

My grandmother had alpha-1 antitrypsin deficiency, should I be tested for it?

Alpha 1 antitrypsin: The genetics of this deficiency is complicated. The test is widely available for screening. Your question requires an understanding of the implications of a positive test, so that a discussion and or consultation with a geneticist is probably a good idea. ...Read more

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Hello docs, is alpha-1 antitrypsin deficiency life-threatening?

Yes: With some variation, the form presenting in childhood can lead to liver failure and death if a liver transplant is not available. The chronic lung issues are disabling for some. ...Read more

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