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Doctor insights on: Methylenetetrahydrofolate Reductase Polymorphism

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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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Whats pyruvate dehydrogenase complex?

Whats pyruvate dehydrogenase complex?

Enzymes: Pyruvate dehydrogenase complex is a complex of three enzymes in the mitichondria that change the Amino Acid pyruvate into the molecule acetyl-coa by a process called pyruvate decarboxylation. Acetyl-coa is used in the citric acid cycle to make energy for cells the complex links the metabolic pathway that breaks down glucose (elemental sugar) to the citric acid cycle. ...Read more

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Is factor 7 gene mutation (heterozygote) thrombophila?

Is factor 7 gene mutation (heterozygote) thrombophila?

No: Factor 7 mutation is very rare and causes increased risk of bleeding (not being able to clot). Factor 5 deficiency is the most common form of thrombophilia (increased risk of abnormal clotting). ...Read more

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Does mthfr heterozygous c677t mutation affect pregnancy?

Likely not much: The existing evidence does not support any strong connection between heterozygotes for either the c or a mutations of mthfr and poor pregnancy outcomes. Homozygotes may well be at greater risk. Depending on clinical history, different levels or surveillance and possible intervention can be considered. ...Read more

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Does heterozygous for MTHFR gene mutation affect pregnancy?, and what about taking synthetic folic acid supplement?

Does heterozygous for MTHFR gene mutation affect pregnancy?, and what about taking synthetic folic acid supplement?

Controversial...: Some studies have shown an association between the MTHFR gene mutation and recurrent miscarriages but this is controversial. Aside from this possibility, it doesn't cause problems with pregnancy. If you have this mutation, its a good idea to take folic acid, vitamin B-12 and Vitamen B-6. Aspirin is also sometimes recommended for women for who have had recurrent miscarriages. Best wishes! ...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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Do all mthfr gene mutations benefit from folate over folic acid? Or certain stands? Is there different treatment for heterozygous v homozygous?

MTHFR : MTHFR has several forms. And treatments can vary. Look here for additional information. http://mthfr.net/mthfr-c677t-mutation-basic-protocol/2012/02/24/ ...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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What is a hereditary hemochromatosis DNA mutation?

Gene Mutation: This is a mutation in one of the genes that help to process iron absorption. The mutation, if present in 2 copies, can cause too much iron to be absorbed. The excess iron then deposits in other organs and can cause disease - cirrhosis, diabetes, impotence. Having only one mutation may not lead to disease. You should discuss this with your doctor to see if you are at risk of developing disease. ...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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Increased aldolase, complement c3/c4 serum, sed rate, c-react. Protein, beta globulin, monocytes, bun/creatin low mcv-mch, vit d-possible causes?

Increased aldolase,  complement c3/c4 serum, sed rate, c-react. Protein, beta globulin, monocytes, bun/creatin low mcv-mch, vit d-possible causes?

Complicated: When i was doing clinical medicine, these were collectively sort of the flags for sarcoid disease but I am not saying that's the case here. This is because sarcoid is a diagnosis of exclusion so the advice is to rule out other diseases with additional diagnostic tests which can be done by a primary care physician or rheumatologist. ...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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-incom. Rt. Bundle branch block -cholesterol (total), serum by enzymatic method 208 -biochemistry lipid profile : LDL cholesterol, serum 133 ?

-incom. Rt. Bundle branch block 
-cholesterol (total), serum by enzymatic method 208
-biochemistry lipid profile : LDL cholesterol, serum 133

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Unlikely 2B related: Total and LDL cholesterol look ok, unless you have heart disease or multiple risk factors for heart disease, then LDL goal is <100. Inocmplete rbbb can be normal. Sometimes is just actually a "r s r-prime" pattern in certain electrocardiogram leads- many times a normal finding seen in healthy young military recruits. Incomplete rbbb can progress to a complete right bundle block. ...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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Deplin, acetyl l carnitine, magnesium and alpha lipoic acid. Interactions? Concerns?

Deplin, acetyl l carnitine, magnesium and alpha lipoic acid. Interactions? Concerns?

Your review is wise: There are no noted interactions between these substances and each other but each may have interactions with other substances. If you are on or plan to be on other substances or medications, advise doctor and pharmacist so interactions may be reviewed. Best regards for your health and well-being. ...Read more

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Hemoglobin 8.4, kft, anemia profile, protein electroph, iron, b12, folate, (folic acid) m protein - all normal. Kappa lambda ratio 2.96 - means ?

Hemoglobin 8.4, kft, anemia profile, protein electroph, iron, b12, folate, (folic acid) m protein - all normal. Kappa lambda ratio 2.96 - means ?

?Find cause for Anem: You have anemia for which your doctors should find a cause. This requires doing a variety of tests which a good physician or a hematologist(blood specialist) can do. Unless already done, you need an examination of your bone marrow and more tests till we find the cause of your anemia. The light chains may be hinting at a possible cause which can be checked further with a bone marrow examination. ...Read more

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