Doctor insights on:
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
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 moreSee 1 more doctor answer
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
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
Pyruvate ....: Much to much to get in short response. Please go on-line to "emedicine.medscape.com" and you will find a lot of important information. You will find other similar comments on the web as well. If you don't have computer access please visit your local library and they will guide you to the right articles. ...Read more
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
Could asupplement with aminoacids, vitamins(l-carnitine, l-tartaric acid, potassium chloride, l-leucine, isoleucine, valine, nicotinic)cause damage on brain?
Not likely unless...: Unless you're truly deficient, it's not likely that you'll find much benefit from b complex vitamins. Sure we look for B12 & folate (folic acid) deficiency in alzheimer's dementia, but I have yet to correct someone's levels & return their thinking process. If you drink alcohol to excess & forgo proper balanced nutrition, you can run low on b vitamins for which extra might be useful but this is pretty rare. ...Read more
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
Vitamin d deficiency: Vitamin deficiencies are fairly common in our population, but aren't regularly measured. It is partly related to our dietary habits, and a diet in high fat, high calorie food is not necessarily nutritionally balanced. The other, specifically for vitamin d, is related to sun exposure, and many of the morbidly obese are not very physically active and engage in regular outside activities. ...Read moreSee 1 more doctor answer
Serum b12> 1999 mma 0.4, homocysteine high 19. No folate (folic acid) or iron deficiency normocytic anemia not responding to procrit. Is this an absorption issue?
Anemia: can be caused by blood loss or bone marrow suppression as well. More information is needed ( how long have you had a normal iron, folate (folic acid) and b12 level. What is your reticulocyte count ? ( is your bone marrow producing new RBC's) ? How low is your HCT and has it come up or gone down with B12. Is the RDW elevated ( do you put out large and small RBC's at the same time? Any blood loss ? ...Read more
Seek cause: Vitamin d deficiency is very common today & may explain the high alk phos in an adult; it's usually due to misguided "healthy" lifestyles avoiding sunlight and vitamin-d enriched dairy products. Anemia is more worrisome and always requires a real medical workup; nutritional iron deficiency is rampant in our world but other causes must be sought as well. Good luck & stay proactive. ...Read more
Which one is a more trusted marker for copper deficiency anemia - 1. Serum Copper levels or 2. Serum Ceruloplasmin level?
Serum copper, but...: "Copper deficiency anemia" is extremely rare. If you're actually being screened for Wilson's, which is quite common, it's a different story -- urine copper is preferable to either. If you're not overdoing oral zinc & haven't had bypass surgery, this is an extreme long shot needing a very low serum copper and confirmation with a bone marrow study. ...Read more
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