Doctor insights on:
Mitochondrial Disease And Speech Delays
Defect. Small organelles in the cells responsible for generation of energy required for metabolism may malfunction due to mutations in the genes. The most common manifestation involves abnormality in the function of the muscles, other systems may be affected depending on ...Read more
Hereditary blindness: LHON stands for Leber's hereditary optic neuropathy. It is inherited from mother to child. Usually a young man loses eyesight in the enter of one eye, and shortly after he loses eyesight in other eye. Women are less often affected. Gene mutations that are responsible for this disease is known. There are no curative treatments. If you carry this gene, you should avoid smoking, alcohol certain drugs. ...Read more
Progressive vision: Loss occurs as a result of this condition which is the most common known mitochondrial disease. About 45 mutations have been linked to LHON. Although it is the most common, it is nevertheless rare and must be treated at a center with knowledge of and experience with mitochondrial disorders. ...Read more
Not very likely: Mitochondria are "power-houses"--they generate energy from inside all of your cells, except red blood cells. Thus, these are intracellular structures and diseases often result from mutation/genetic defect, drug, certain infections such as HIV/cytmegalovirus--as these go inside cells. Tumors result from mutation/defective DNAs, so possibly can cause mitochondrial disease, but low chance. ...Read more
Avoid toxic foods: Avoid sugars, fried foods, vegatable oils like canola & soy, meats that are cured wth nitrates & nitrites, aspartame, splenda, partially hydrogenated vegetable oils, maragarine, soy based products, sweetened beverages like juice & soda, microwaved foods, artificial colors & flavors. All of these products cause damage to the cells, tissues & organs in your body contributing to various diseases. ...Read more
Heavy metals: Lead and mercury toxicity, prolonged immobilization and lack of exercise, etc. - those are forms of secondary mitochondrial disease. ...Read more
Symptoms can be related to anything.
Make a list of your symptoms and take them to see your doctor. ...Read more
I have been diagnosed with mitochondrial disease and have arthritis. Will marujuana every once in awhile help?
Arthritis maybe: At least as far as pain relief, but mitrochondrial disease might be a problem, since cannabis has been shown to increase mitochondrial dysfunction. I would talk with your metabolic specialist before you try anything. There are better meds/treatments for arthritis than cannabis. ...Read more
Definition of Mito.: Mitochondria are specific organelles within our cells. They are essentially the energy-producing factories of the cells; they produce (among other things) a molecule called ATP (adenosine triphosphate), which is the energy currency of the body. There are a few mitochondrial diseases; these diseases specifically affect this very important structure within our cells. ...Read more
Genetic change: Mitochondrial diseases can be caused by changes in mitochondrial dna (mtdna), inherited only from mother but most are caused by changes in genes inherited both from mother and father (nuclear genes). It can be inherited in other ways too. More info on the complex inheritance of mitochondrial diseases: http://www. Umdf. Org/site/c.8qkoj0mvf7lug/b.7940911/k.555f/inheritance__genetics. Htm. ...Read more
Mngie: MNGIE is a multi system autosomal recessive disorder characterized by gastrointestinal dysmotility and peripheral nervous system involvement death occurs before 35 years of life. Treatment options include allogeneic hematopoietic stem cell transplantation and carrier erythrocytes entrapped TP therapy. Hope this answers your question. Mitochondrial Neurogatrointestinal Encephalomyopathy ...Read more
Big work up: All suspected patients get blood and urine tests. Then to see how widespread the disease is, ekg, echocardiogram, brain mri, audiology and eye exams are next. Patients with neurologic symptoms need spinal fluid tests, and people with developmental delays get neurogenetic testing and counseling. For more info and to find docs that take care of these diseases, see umdf. Org. Good luck. ...Read more
No: Astigmatism has to do with the shape of the eyeball which is heavily influenced by genetics. It is quite different from what happens inside the metabolism of functioning cells. The mitochondria are little work centers that process/make things in response to and in unison with the information provided by the cell nucleus. ...Read more
No: Tcs is an autosomal dominant disorder. The primary identified mutation is in the tcof1 gene (97%) which is located on chromosome 5q32-q33.1. There are at least 2 other gene defects that are responsible for some cases. Since these defects are in the main dna, it is not mitochondrial in origin. ...Read more
Mitochondrial disease - why can people who have this, only exercise for only short periods of time?
Energy deficiency: Mitochondria are the batteries of the cell, with about 1000 per cell. They transform chemicals using oxygen (oxidative phosphorylation) to produce high energy phosphates (atp, etc.) that power muscles, heart, and brain. Mt disorders cause eye muscle deviations, low muscle tone, muscle cramping, decreased cardiac performance, and, in severe cases, intellectual disability. ...Read more
Maternal and Regular: A few mitochondrial diseases are passed from the mother to all of her children. This is because certain mitochondrial genes are inherited from the mitochondria in the egg's cytoplasm (outside the "nucleus" that contains the regular genes). Other mitochondrial diseases are inherited the regular way, from the genes in the egg "nucleus" and in the sperm, that code for new mitochondria in the embryo. ...Read more
See this site: This should be helpful: http://ghr. Nlm. Nih. Gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease. ...Read more
Consult a specialist: Mitochondrial diseases are quite complicated and best evaluated at a specialized research center or a university medical center. The united mitochondrial disease foundation website (www. Umdf. Org) lists several types of blood and urine tests, heart echo (ultrasound), brain mri, eye and audiology exams, heart ekg, spinal fluid tests, chromosome tests, muscle biopsy, etc... As possible test choices. ...Read more
Often it is: Mitochondrial diseases can present from any organ system at any age. Diagnosis can be made by specific clinical criteria (symptoms, brain MRI imaging, muscle biopsy, elevated lactate in blood) or, by finding a genetic mutation either in mitochondrial dna or one of the hundreds of other genes that cause mitochondrial disease. Latter is a more accurate diagnosis. ...Read more
No: There are no vaccines that actually prevent mitochondrial disease, but the vaccines can prevent infections that can trigger serious flareups of mitochondrial disease. ...Read more
Could a mitochondrial disease present with severe ibs-d, then progress to neuro issues? Pelvic adhesions? Pain?
Maybe: Most things are connected. You may also have autoimmune dysfunction. You clearly have inflammatory issues. Diet diet diet. Stop all dairy and gluten first. Consult an acupuncturist/chinese medicine practitioner. You could also look for a functional medicine physician in your area. These symptoms are all connected...Untangling the information is the journey. ...Read more
Is mitochondrial disease passed down from the mother? If kiddo has it, does it mean mom has it too?
A friend's child has been diagnosed with SMA (spinal muscular atrophy). Does this happen to be a mitochondrial disease?
Most are gene mutatn: There are many subtypes of spinal muscular atrophy. Gene mutations have been associated with specific chromasomes including the x, 5th, 11th, 12th& 20th. This defect is generally passed as an autosomal recessive or x linked disorder. Other forms are possible. ...Read more
I have mitochondrial disease that causes severe gastroparesis. Currently I'm on a fairly low rate of an elemental formula through my J-tube, though I've been on TPN previously. I also currently have a PICC for fluids, meds, and occasionally antibiotics.
Yes?: So we see you have multiple problems. What is your question? ...Read more
Which type of doctor Dx's mitochondrial disease? Genetics? Neuro? Is there such thing as a mito specialist? Clinic best known for mito?
Pediatric geneticist: Mitochondrial diseases produce particular syndromes that would be hereditary through the maternal line. The severity of the symptoms varies even within affected individuals in the same family. Closely looking at metabolic breakdwon products in urine and a muscle biopsy would diagnose nearly all of the cases. ...Read more
Was diagnosed with mthfr and a mitochondrial disorder what does this mean. I have CHF already and kidney disease and COPD.
Talk to your doc: A MTHFR deficiency is a shortage of a specific enzyme that put simply put one at risk for occlusive vascular disease, alzheimer's and other dementias. There are several types depending on how many genes are mutated. A mitochondrial disorder (there are many) essentially leaves one with neurologic symptoms (neuropathies) and various myopathies. Your doc is the best one to explain what that means to u ...Read more
Was diagnosed with MTHFR & Mitochondrial Disorder. What does this mean for me. I already have CHF & kidney disease & COPD?
Geneticist: Speak with the geneticist. It affects your brain, your blood, your digestive system. Someone needs to put this together for you. There are a lot of factors to consider when treating any thing. Are medications not working or making things worse bec of your lack of methylfolate? Need to go back and talk to your physician ...Read more
I have been diagnosed with MTHFR & Mitochondrial disorder. I have CHF, COPD, Kidney disease & 4 herniated discs & have a neurotransmitter to urinate?
MTHFR: Recent human genome (DNA) studies revealed defects in certain genes in human DNA that make “MTHFR”. It’s an enzyme that works with the folate vitamins (B9, folic acid), that converts the amino acid homocysteine down to another essential amino acid, methionine, which is used by your body to make proteins, utilize antioxidants, and to assist your liver to process fats and when converted to another chemical SAM. SAM is anti-inflammatory, supports your immune system, helps produce then breakdown of your brain chemicals serotonin, dopamine and melatonin, and is involved in the growth, repair and maintenance of your cells. If your MTHFR gene doesn’t make a good enzyme, it can affect many organ systems, as your particular case demonstrates on the heart, lung, vessels in your CHF, COPD, and renal failure. This disease requires some in depth explanation from a source or provider beyond this forum. ...Read more
Energy loss: Mitochondria are the "engines"of each cell throughout the body. Loss of energy changes normal functions and the symptoms are many. Mitochondria have their own genes and they are inherited from the mother alone. ...Read more
No cure yet: There is no curative treatment yet available for mitochondrial disorders. However, a lot of research is being done in this area. In the meantime, the treatment includes various supplements (vitamins and antioxidants) that may help some patients, maintaining healthy lifestyle, and avoiding triggers that may make disease worse such as certain medications that affect mitochondrial function. ...Read more
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