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Q: I am 50 yrs old and have a diagnosis of Mitochondrail Myopathy. I have recently been diagnosed also with myasthenia gravis. Have you seen this in others with MITO and how will this affect the mito symptoms, if any?

A: The diagnosis of mitochondrial disease and myasthenia gravis are often very similar - I have not heard of patients with both diagnoses, but often heard of patients in whom one diagnosis has been made but subsequently are shown to have the other. My question would be, how much evidence is there that you have mitochondrial disease and how much that you have myasthenia?

Answered by: Douglass M. Turnbull, MD, PhD

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Q: I am 51 years old and have been diagnosed with MELAS. I had a positive muscle biopsy in Feb 05. My question is I have parkinson's symptoms but my neurologist in Houston says it is a result of the disease. My local neurologist has me on parkinson's meds but they have caused some side effects such as more confusion than normal and myoclonic jerking, so we reduced the dose. My symptoms have leveled out but I am confused on whether these drugs are helpful or have I just had a plateau of symptoms. I have cardiac problems along with this mito disease so I am on lots of medicine. Thanks for any information. I realize you are not here to diagnose; I'm just confused!

A: As the name implies, mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS), is a mitochondrial disease characterized by unusual stroke-like episodes in young people (generally under age 40) and elevated lactic acid in blood. Parkinsonism (symptoms or signs resembling Parkinson disease) is not typical of MELAS, but has been reported in at least one young boy with MELAS (Ann Neurol 1999;45:130-3). In addition, mutations of the mitochondrial DNA polymerase gamma (POLG) sometimes cause Parkinsonism. Therefore, it is possible that your Parkinsonism is due to your mitochondrial disease.
Because you do not have Parkinson disease (PD), your response to medications will be different from typical patients with PD. It is difficult to know whether the leveling out of your symptoms are due to the medications, plateau of the disease, or both. Since your Parkinsonism has not improved with medications, you should talk to your neurologist about continuing or changing therapy.

Answered by: Michio Hirano, MD

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Q: I am a 49 year old male with LHON AND MERRF. I am scheduled for a colonoscopy on 1/29/07 and thought I've read that those with a Mitochondrial problem should watch out for fasting, and special measures should be taken. Could you please tell me if fasting for 24 hours should be avoided and what kind of precautions should be put in place during the procedure?

A: Wow, sorry to hear that you have two problems, LHON and MERRF. Do you have both the most common mutations, 8344 (MERRF) and 11778 (LHON)? The reason for the fasting is so the colon can be as clean as possible to view. You should be allowed to have fluids, water, soda, jello, chicken broth before 6 pm the night before the procedure. If you schedule the procedure early in the am, then you will not be without nutrition for too long. The procedure is short so likely there will not be the need for prolonged anesthesia. If possible I would see if you can use the FLEETS treatment. It is better than the Go-Lytely and you can drink it with some root beer (source of carbohydrate). I hope that the procedure does not yield any polyps and you can have another 10 years before the next one.

Answered by: Russell Saneto, DO, PhD

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Q: My son has been diagnosed with Complex I. The diagnosis was confirmed after a muscle biopsy was performed. Is it possible that he has another disease instead that interferes with how the mitochondria work and this is what caused the test results. In other words, could he have something else which causes a "mis-diagnosis" of mito disease?

A: You are asking a very sensible question but one for which it is difficult to give an absolute yes or no answer. You are correct in thinking that some conditions can interfere with how mitochondria work and lead to a change in the amount of Complex I and other mitochondrial enzymes. For example, children and adults with many problems leading to muscle disuse or weak muscles may have fewer mitochondria and less Complex I in their muscles than a healthy person. Conversely, an elite athlete may have lots more mitochondria and hence more Complex I in their muscle than a person of average fitness. So a low amount of Complex I per gram of muscle doesn't necessarily mean that someone has a primary genetic cause of Complex I deficiency.
All experienced mitochondrial diagnostic centers therefore have to look at not just Complex I, but Complex II and Complex IV and other mitochondrial "marker" enzymes as well such as citrate synthase. The pattern and ratios of enzyme activities are more important than the absolute amounts. For example, if we found less than 20% (one fifth) of the normal amount of Complex I in a muscle biopsy and the other enzymes were all 100% of normal or higher, we would regard it as strongly indicative of Complex I deficiency. But if other enzymes such as citrate synthase were also low, then we would think the low Complex I activity may be secondary to some other condition rather than a primary Complex I deficiency.
I would expect that any experienced diagnostic center performing measurement of mitochondrial enzyme activities should have studied muscle samples from individuals who have muscle disease that is caused by something other than a mitochondrial problem. That type of experience helps the lab to distinguish primary genetic problems from secondary ones. However, we and many others take the attitude that for a definite diagnosis of mitochondrial disease, we cannot rely on measuring enzymes alone but need to consider the complete picture.
For a definite diagnosis we want to see support from other independent sources, such as the specific symptoms, imaging studies, metabolic studies, mutation analysis or other studies such as muscle histology. That is a relatively conservative approach which means that we only give a definite diagnosis to patients with strong evidence from two or more sources. For those patients we are essentially certain that they have a primary mitochondrial problem. The downside of that approach is that some patients end up with the unsatisfactory label of a probable or possible diagnosis. Since you are clearly concerned about whether the diagnosis is certain or not, I suggest you ask your physician to confirm whether they regard the enzyme results and other investigations as sufficiently strong to warrant a definite diagnosis.

Answered by: David R. Thorburn, PhD

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Q: Is it likely to have a healthy baby after having a late miscarriage of twins four years ago, then having a one year old mito-affected baby, and then another miscarriage a few months ago, in a mito-affected mother who also has cancer?

A: Unfortunately, it is virtually impossible to answer your question. From what you say, I assume that the mitochondrial disorder affecting both you and your child is due to a mutation in the mitochondrial DNA (mtDNA) because it appears to be maternally inherited. This is the aspect that worries me more than the cancer for what concerns the health of a new baby. Most mtDNA mutations are transmitted from the mother to the fetus, but for most of them it is impossible to predict how they will distribute in different tissues of the baby. Do you know the nature of the mutation? This may be very important.

Answered by: Salvatore DiMauro, MD

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Q: I have a specific question regarding lactate levels in blood with children with mito diseases or who are being tested for mito diseases. My son who is almost four is being tested for a mito disease. In spring 2006 he had blood tests done and his lactate levels were in between 5 and 6. Prior to this first test my son was very sick. He had colds, flu, and had vomiting and diarrhea issues. He missed half of his days at preschool due to sickness. In fall 2006 he had another blood test to check his lactate levels. They were between 1 and 2. My question is this: In the summer, July and August, he was not sick and actually during this time he was very healthy, finally progressing, and made huge strides in his development. Does the swing in lactate acid levels happen in people without mito diseases? Or do lactate acid levels reach that high normally with sickness? Is this an indication of the disease? A muscle biopsy was done and found no red ragged fibers. I am not sure if I should mention this to the doc testing my son. We met with him and I am not sure that he knows how sick my son was for the first test versus the second test?

A: I would need more details of your son to answer specifically. In general, however, lactate levels are very variable; even in definite cases of mitochondrial disease we have seen repeated normal values. As we know, levels are definitely affected by illness even in non-mito kids. Fever, dehydration, viral infections, etc. can all raise the levels and usually when children are sick, they may cry more, which also affects levels. Even IV glucose can raise levels. So in a nutshell, yes, the levels described do not confirm or exclude the diagnosis of a mito disease; neither does the absence of ragged red fibers. One would need to review all the features and results to have a good pciture and even then it is difficult.
I have statistics to illustrate this for children even proven to be Complex I deficient, as an example. Many other mito kids can be similar. The only real situation I have found that the lactate is persistently elevated (other than children wo are severely ill) are those with Pyruvate carboxylase deficiency and some but not all children with the MELAS 3243 mutation. When lactate is elevated, it is helpful with diagnosis; when it is not, it isn't helpful. I think there are other mito doc Q&As along these lines in the archives, too.

Answered by: Annette Feigenbaum, M.D., FRCP

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Q: Is it rare for a child to not show any signs of having a mitochondrial disorder except protein wasting in the urine? Could the skin biopsy be a false positive? My son has a Complex I mitochondrial disorder. He shows no outward signs of a disease; he is strong and the only problem that he had was that he had protein wasting in the urine and was slow to grow (10th percentile for height and weight), but that could be attributed to his parents' height and weight also. When could I expect to see some outward signs of the disease?

A: I am sorry that your son has kidney problems. Yes, there are patients who do not express "outward" signs and still have a mitochondrial disorder. This can be especially true in children who have a mutation in a mitochondrial gene and only develop their disease when they become young adults or later. Single organ involvement may also be seen in patients who have mutations in structural nuclear genes of one of the electron transport chain complexes. There has been some debate on how reliable the fibroblast assay for complex I is in various labs around the world. I know that the Netherlands group has done a lot of nice work with complex I assays and skin fibroblasts. There are other labs whose work is excellent as well. That being said, yes, mitochondrial disease can be limited to a particular system such as the kidney. It is difficult to give you an exact answer as "protein wasting" is a broad term. Some mitochondrial diseases can give a tubulopathy where there are electrolyte abnormalities and others can give episodic times where there is elevated protein in the urine, often associated with muscle cramps and maybe some weakness that will resolve. The latter is particularly true in coenzyme Q10 deficiency, which may give lower values in complex I, I/III and II/III, as well as normal values on analysis. A complex III disorder has been shown that is expressed as myopathy with myoglobinuria (protein in the urine). So, I can't tell you if your son has a primary mitochondrial disease or not. However, he does have a complex I dysfunction in his skin fibroblast. He is short (albeit may relate to family height genes and not a mitochondrial-influenced reason). He also does have "protein wasting" evidence in his urine. There is no crystal ball to give us information concerning when "symptoms and signs" of mitochondrial disease may occur, although stressors such as illness and growth spurts often are triggers. Let's hope that his only problem will be periodic "protein wasting."

Answered by: Russell Saneto, DO, PhD

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Q: My son is almost 4 years old and he has Mito, Complex I. He recently had a Nissen Redo. and Pyloraplasty, due to his reflux. He has been having pain after medications and feedings ever since this surgery. We recently found out he has dumping syndrome. We are going to put him on Levsin to help with the GI issues. Do you know of any problems with using this drug on a child with Mito? I read an article about the drug and it stated that it could cause him to not sweat which could lead to heatstroke. He does have autonomic dysfunction and has trouble controlling his temperature, but we were told our only other alternative would be to hook him up to a pump to feed him. He is rolling all over and we believe doing this would limit him.

A: I am sorry to hear your son is sick. Although I am a Child Neurologist, I have followed children with Mitochondrial Cytopathy that includes GI involvement. Reflux and GI motility issues are very common in children with mitochondrial disease. There are many medications that can help control GI symptoms, and Levsin is a common medication used for cramps. Your son may not experience any of the listed side effects, so if his doctor thinks it will help his GI symptoms, then you should try it and observe for side effects. I have not heard of children with mito in particular not being able to take this medication, and several of my patients are on it and doing well. There are several other medications that can be used to help treat the symptoms. It does not sound like he is having pseudo-obstruction or slowed motility/delayed gastric emptying, but rather motility that is too quick. Amitriptyline, Neurontin, Periactin, and the SSRIs (like Prozac) can all help the GI tract motility and can be used for irritable bowel syndrome. Speak to your doctor about the possibility of using these as well. Finally, even if you need to feed him via pump (he has a G-tube?), he may be able to have "bolus" feeds instead of being on a continuous pump, which would allow him to be mobile in between his feedings and your doctor can work out a feeding schedule for him.

Answered by: Amy C. Goldstein, MD

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Q: Two questions regarding dental issues: We have a 5 yr old daughter with complex 1 deficiency.She has developed dental caries and gum inflammation, probably due to difficulty obtaining optimal dental hygiene, due to neural and GI impairment. Do you have recommendations regarding prevention and optimal dental hygiene? Secondly, she requires general anaesthesia to allow theraputic dental surgery.What are the precautions or recommendations regarding anaesthesia, and general peri-operative care?
Does mito disease affect dental health? I am a 51 year old woman diagnosed 2 years ago with MELAS. So far this year I’ve needed 3 root canal treatments. Now I have 2 more teeth that are presenting as problems, with electrical shooting sensations through them. I have had similar pains in my feet and hands. Could mito somehow cause injury or death to the nerve of the tooth? I don’t look forward to an additional 2 root canals or the cost of the subsequent crowns on these teeth.

A: Although as clinicians, we recognize that mitochondrial dysfunction can cause multiorgan system disease, we know very little about the possible impact on dental health. Some studies have suggested that patients with significant periodontal disease have low levels of endogenous Coenzyme Q10, pointing to mitochondrial dysfunction. Additionally the generation of reactive oxygen species by the mitochondria may contribute to apoptosis and gingival inflammation. Dietary effects of mitochondrial disorders may impact the ability of the enamel and gums to remain healthy and recover from minor traumas. Future research is likely to reveal more information on this subject.
In children with neurological impairment, dental hygiene may become a difficult issue to address. Additionally, certain medications given to control seizures, spasticity, etc. may cause gum hypertrophy or bleeding. The impacts of poor oral motor tone, mouth breathing, and residual food in the mouth may increase risk of dental caries and poor hygiene. The control of saliva and secretions can lead to either improved care or alternatively increased caries as saliva contains important antioxidant protective effects. Often there is no choice but to perform an examination, or perform dental care under anesthesia. The potential risks of anesthesia in a patient with mitochondrial disease may not be trivial. This topic is covered in much detail by an article authored by Drs. Bruce Cohen and John Shoffner that appears on the UMDF web site, and I refer you to this for more detail.

Answered by: Andrea Gropman, MD, FAAP

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Q: Are there known documented reasons why mito patients should NOT have a stress test on a treadmill? I had a stress test on a treadmill two and a half years ago and it nearly killed me. My cardiologist wants to update my cardiac status by doing another stress test in three weeks. I am physically dreading it. My stamina and endurance are not great now so why expend my energy on a treadmill?

A: The main contraindication to a stress test in mitochondrial patients is if the amount of exertion needed for the study would lead to a regression or decline in baseline functioning. If a patient or guardian does not feel that this test would be safely tolerated, it should be pursued with caution and a limitation on the amount of activity performed during the study.

Answered by: Sumit Parikh, MD

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Q: We have a 5 year old son with muscle biopsy confirmed diagnosis of Mitochondrial Disease, Complex I & Complex III. In the last 9 months he has had 6 pneumonias, has lost tone in his face; his tongue seems to hang out a lot of the time; he no longer has reflexes in his hands, arms, ankles and knees, and has been diagnosised with paralysis of his left vocal cord. He just had an MRI of his brain and CT scans of his lungs as well as chest to base of skull - in which none of these tests showed anything. Are all the above issues expected with children with mitochondrial disease, or are these things that will return within time? Does this mean that his disease is progressing and if so what should we expect next and what should we do?

A: What you describe seems to point towards a mitochondrial disease affecting predominantly - if not exclusively - the musculature: brain MRI is described as normal and I assume that your son does not have seizures or cognitive problems: is this correct? The difficulty in giving advice and, especially, prognosis (that is, predicting the future) is that, even when one considers only the myopathies, there are so many different causes. A combined defect of complex I + III does not give me sufficient data to venture a precise diagnosis or a prediction on his future course. I would need to know family history, detailed clinical picture, histochemistry, detailed biochemistry, and whatever molecular studies have been done. I am sorry, but these diseases are like a tangle of string; you need to consider every loop before you can straighten the situation.

Answered by: Salvatore DiMauro, MD

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Q: My doctor tells me I have had c difficile syndromes many times, even though only toxin positive twice. An immunologist suggested I get a carnitine level in June when I was complaining of leg weakness and he knew I had protracted c diff illness. When the levels were low, I began on supplements and during taper off my vancomycin at the end of June, I began getting what my doctors call air hunger, and I call shallow breathing followed by gasping. I was told to inquire about mitochondrial disease, but when I do, I am received by doctors in humiliating and disrespectful or outright non-communicative manners, and I am told this disease is only one of children, even though my reading tells me otherwise. Is c diff known to be an acquired cause of mitochondrial disease? How can I suggest this possibility to doctors who are ready to disclaim the idea of adult mito disease, and are not as aware as my own internist is that when someone gets a distended swollen belly and smells of stool all over, and feels very sick, that in the setting of antibiotic use, it is possible to have c diff because some of the treatments neutralize the toxin, I am told, or the toxin may not be secreted all the time. Please suggest how I go about broaching this without ridicule if there really has been an association in the literature.

A: I am sorry to hear about the difficulties you have had with your health and during your attempts to communicate with certain physicians. You are correct in asserting that mitochondrial disorders are not restricted to children. In fact, they can affect anyone at any age. Because mitochondrial disorders are associated with a variety of symptoms (virtually any organ system can be affected), these conditions are often considered when an individual has a confusing set of problems affecting different parts of the body. Although some individuals with mitochondrial disease have impaired immune function and an increased susceptibility to infection, I am not aware of Clostridium difficile infections actually causing mitochondrial disease. There have been reports in the medical literature describing how a toxin made by C. difficile likely affects mitochondrial function. This is not surprising because many different types of bacterial toxins harm mitochondria. However, this is different than having a toxin exposure cause permanent mitochondrial disease. If you are still experiencing weakness and breathing difficulties, your internist should be made aware of these symptoms, because a referral to other specialists, may be helpful. You can always refer a health care provider to a good source of information on mitochondrial disease, such as the UMDF website, but it might be best for your internist to contact directly the other doctors with whom you have had a difficult time discussing the possibility of mitochondrial disease.

Answered by: Greg Enns, MB, Ch.B

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Q: Our daughter who is almost 11 is basically good all week and then on Fridays after school she goes into crisis. This has happened 3/7 weeks of school and also almost 100% when it has been a full week of school. They take her stats at school and they are "normal" for her (she has sinus tachycardia) and seems fine in school. They want to know what they can do in school to prevent this from happening. She is in a small self contained special ed classroom so they can do whatever we want specialized to our daughter. Seems that she uses all of her energy to get thru the week and then bottoms out come Friday night and it takes until Sunday for her to recover. Do you see this in other children and what can we do for it?

A: You described the chronic fatigue that is all-too-common in individuals with mitochondrial disease. It is well appreciated that patients with mitochondrial disease tire easily and show decreased stamina in physical and other activities. However, this is rarely studied or discussed in detail, perhaps because it is so intuitively obvious that an energy deficiency could result in fatigue. What is not often appreciated in the literature (but "lived" in so many families), is that this fatigue can be so severe and incapacitating as to be THE major concern of the patient and family. In fact, in an unofficial survey of our patients, the fatigue frequently is severe enough to meet the international diagnostic criteria for chronic fatigue syndrome. Among the families that demonstrate maternal inheritance, this is the case even more so in their mothers. For your information, a simplified version of the international criteria for chronic fatigue syndrome is:
1. Chronic fatigue for more than 6 months
2. Suffering from at least 4 of the 8 following symptoms:
a. Muscle pain
b. Joint pain
c. Headache
d. Sore throat
e. Tender lymph nodes
f. Still feeling fatigued after sleeping
g. Feeling "worn out" for more than 24 hours after strenuous activities
h. Substantial impairment in short-term memory or concentration
Although not on the above list, tachycardia (rapid heart rate) is a dysautonomia-related sign that is common in patients with mitochondrial disease, especially during fatigue.
Unfortunately, the fatigue that is so common in people with mitochondrial disease is very difficult to treat. Some children derive benefit from frequent snacks (especially with a high starch content, not a lot of simple sugars, and with some protein). Many children cannot tolerate the full school week and go onto half-day or otherwise reduced school schedules. I do not recommend this unless necessary as the children benefit from the activities, socialization and activities in school, and reduced schedules can delay dealing with the problem until later in life (college, job, family, etc.), when a higher productivity is more mandatory and people are less forgiving.
Some physicians recommend uncooked cornstarch and/or energy drinks/bars prior to exercise, as well as the supplement creatine (about 140 mg/kg/day or 5 grams maximum). Sometimes, caffeine can help with alertness, and with associated pain. These measures have not been well studied, but some families claim that they help a little.
In my experience, the best therapy for chronic fatigue in patients with mitochondrial disease is exercise. Exercise is also helpful in people in general with chronic fatigue syndrome. Whether you are a gold-medal athlete, a patient with severe mitochondrial disease, or somewhere in between, exercise will increase the number of mitochondria and the ability of each mitochondrion to make energy. Regardless how poorly the mitochondria may be functioning, more of them is better than less of them in this regard.
But some of you might be asking yourselves: "Doesn't exercise increase energy demand and thus cause symptoms?" Well, "yes" and "no". Many of our children with mitochondrial disease (and in many families, the mother and other maternal relatives as well) have had experiences in which a lot of physical activity resulted in severe fatigue, nausea and other symptoms, which then lasted for days. Exercise in mito patients can be a "double-edged sword". While precautions against excessive exercise should be taken, keeping active and participating in as many normal activities as possible is very important for patients with mitochondrial disease, both medically and socially. If walking one block makes your child tired and walking two blocks results in a day of fatigue, then walk one block - a few times every day! Frequent rest breaks, snacks and an increased fluid intake can often help. Exercise should be cut back or postponed when other causes of high-energy demands are present, such as hot weather, a viral illness (a "cold", etc.), allergies, etc. If your child experiences fatigue, headaches, nausea, or muscle pain as a result of excessive exercise, your child should be allowed to discontinue the exercise regimen or rest until the symptoms subside. If possible, discontinue exercise prior to the onset of these symptoms. It is imperative that the patient be listened to in regards to the symptoms listed above, as he/she is the only person who can dictate how much is too much exertion. A physician-written letter to the school/PE coach explaining this can often avoid problems and promote a more active and healthier lifestyle.

Answered by: Richard G. Boles, MD

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Q: What are the mechanisms behind the elevated ammonia levels and Reye-like syndromes that are referred to in Dr. Parikh's sample mito letter in patients with mito disease? How often are elevated ammonias seen in isolation from routine liver function test abnormalities? Given the mchanisms you cite, what are the tests recommended - i.e., is liver biopsy useful? And what are the treatments, other than oral lactulose and ruling out infections?

A: Reye-syndrome refers to a rapid onset, often progressive form of liver failure that has been anecdotally linked to aspirin use in children. We now know that some of these cases are due to disturbed fat metabolism (fatty acid oxidation disorders) - and the disorder presents as acute liver failure at the time of a metabolic crisis. Some individuals with mitochondrial cytopathies can have a secondary disorder of fat metabolism that can also lead to these symptoms.
The etiology of liver failure in those with a primary or secondary disorder of fat metabolism is still being studied - but it is often a physiologic stressor (illness, surgery, anesthesia, medications) that leads to the onset of symptoms and worsening liver function. In these situations, ammonia may become elevated since the liver helps the body remove excess ammonia. Ammonia, in itself, can be elevated in mitochondrial cytopathies as well as other metabolic diseases, without concomitant liver disease. Ammonia is processed in the liver by a set of chemical reactions known as the "urea cycle." These reactions and the enzymes that are a part of it can become inhibited by some of the toxic species that build up in certain metabolic diseases. Marked elevations can be due to primary disorders of the urea cycle itself. If ammonia levels are substantially elevated or leading to symptoms (sleepiness, vomiting, headache), they should be treated while the underlying cause of the elevated ammonia level is being investigated. While traditional medications such as lactulose can help, "metabolic medications" such as dextrose-containing solution, arginine, sodium benzoate, and sodium phenylacetate might be needed. If there is a concern of elevated intracranial pressure, mannitol can be used. Oral and IV protein restriction is helpful. In cases of very high ammonia elevations due to metabolic disease (such as in disorders of the urea cycle), sodium phenylbutyrate (brand name Buphenyl) is now prescribed.

Answered by: Sumit Parikh, MD

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Q: Can an adult with possible mito disease and is on supplements get a flu shot this season? My PMD was afraid to give it to me because of the possible neurologic complications. But I am getting home care and the aides change so often I believe I am at high risk of exposure to the flu. Whenever I get the slightest infection, I don't seem to breathe very consistently. I get air hunger until an antibiotic is started, so I am afraid I won't survive a viral disease. Is the flu shot now a live vaccine? What is the general recommenation regarding flu shots for people with mito disease?

A: I am sorry to hear about your condition. Yes, the flu vaccination uses a live virus, but one that has been engineered to be less harmful but yet give you protection against what is thought to be the strain(s) of the possible virus inducing infections for the flu season. My recommendation to my patients is to receive the flu vaccination. It is always possible to have a reaction from the flu shot as well as have a very mild version of the flu, although these are not common. The protection from coming down with the flu is worth the small possibility of having side effects from the shot. This would be especially true for someone with a fragile medical condition.

Answered by: Russell Saneto, DO, PhD

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Q:
Our daughter has been having low body temps - 95 and lower, low heart rate below 60, and lower blood pressure. Last night, her BP was 74/33. I am putting hats on her to keep up her body temp. And I started a bolus of Pedialyte for the electrolytes. As a result, her temp has been staying ok. What else can I do for the BP and heart rate? I try to stimulate her, to talk to her. Her oxygen level stays good.
I have been taking her to the local hospital and they life flight her to a larger hospital, where they keep her a day and release her with no answers. Every test is normal: blood, urine, chest x-ray, sputum, thyroid. What else do I look for? What else can I do? I have talked with her doctors. One suggested hypothermic measures which I have done. I have sealed the windows, use special blankets and a radiant heater. Do you have any other suggestion we can try. I am afraid her mitochondrial disorder is getting worse and we don't know it.

A: I am sorry to hear about your daughter. What form of mitochondrial disease does your daughter have? When they are taking body temperature, are they taking core temperature or just under the arm? Does she cycle into these states or is this an ongoing problem? Does her cognition change during these events?
Some children with mitochondrial disease have severe dysautonomia and their body temperature, heart rate, and blood pressure can wax and wane. In some patients, I really think they can cycle into these events. I remember that as a resident, Dr. Bruce Cohen had a patient that almost went into a hibernation mode (stopped eating, low heart rate, low blood pressure, low core body temperature) and so Dr. Cohen recommended that the family move to a warmer climate. I had a patient in my practice that could not tolerate high temperatures (meaning above 70 degrees) so I had a “space suit” placed that she could wear to keep cool during the summer and spring months. I realize that these are the extremes and certainly are not documented in the literature. In the case of Dr. Cohen’s patient, if I remember correctly the core body temperature was low. In my patient, she would cognitively decline when the temperature became greater than 70 degrees outside. Since we could not get the school system to lower the temperature, we tried the space suit and it worked for her. In my patient, all the labs were normal. In Dr. Cohen’s patient, I think all the laboratory testing was normal during the events.
I cannot tell you why this is happening to your daughter. It sounds like you are doing the logical things to help her. I hope that this is just a temporary problem. Sorry, that I didn’t have a definite and easy answer for you.

Answered by: Russ Saneto, DO, PhD

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Q: I have heard that tests are run on patients in the hospital on the basis of money rather than quality. How can we be sure we are getting appropriate quality testing? These tests are expensive and often invasive. We don’t want our son to go through unnecessary testing and we want good/valuable information. I work in a clinical diagnostic lab. In order to legally perform and offer testing, the lab is required to follow protocol and perform quality control procedures, and participate in QA programs. Aren’t all these labs doing these tests required to do the same? How can we ensure this?

A: Your question regarding clinical diagnostic lab procedures is a relatively difficult one to answer. You are correct in that most if not all labs that offer clinical testing in this country are certified by a national agency (CLIA certification) and are required to ensure a level of quality, test reliability etc.
The vagary often arises when we are dealing with interpretive testing and/or testing that has the ability to offer differing levels of detection/results. Both of these issues are especially true for metabolic tests.
For example, amino acid analysis in blood or organic acid analysis in urine can 1) measure varying numbers of acids, (from many to all), 2) detect each of the acids to a relative or exact level, (especially when dealing with small amounts), 3) attempt to separate (or not separate) acids that show up in a similar region of the spectral scan, and 4) offer varying "depths" of interpretation depending on who the individual providing the interpretation is ("there are multiple elevations in a non-diagnostic pattern" OR "there are multiple elevations suggesting a post-prandial sample...possible liver disease....etc.")
Unfortunately, regardless of whether the lab is offering a more or less "precise" set of results, they are all certified tests and can state they are offering comprehensive amino or organic acid analysis. The lab that is offering the more precise data or interpretation may charge more and the hospital contracting out this test may not appreciate this added value. The person ordering the test may not realize which lab is better unless they read the "fine print" on how this testing is actually performed at the lab (this information is available at the lab's website). Most metabolic/genetic centers have the ability to pick and choose the better labs that perform this test. Many metabolic/genetic physicians often discard the lab-provided interpretation and interpret the numbers for themselves as well.
So like most things in life, there are plenty of shades of gray when it comes to metabolic testing - and your way of ensuring a more accurate set of results is by finding a knowledgeable physician.

Answered by: Sumit Parikh, MD

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Q: I am 53 years old. I stopped working in September of 2007 and was diagnosed in July 2008. My diagnosis: mitochondrial disease-primary neuromuscular expression. Biochemistry (enzymology): probable complex V (ATP synthase) defect. I would like to know what I can expect in the future. I took 1200 mg of CoQ10 per day for eight weeks and was tested and the level was 207. It should be 350 to 450, so my dosage was increased to 2000mg per day. Is this a normal range for every person or just people with mitochondrial disease?

A: The clinical course of complex V deficiency is extremely variable and it is difficult to make predictions. However, your diagnosis at age 53 places you at the mild end of the spectrum for this disorder and this is in your favor. Similarly, treatment varies from person to person though in general, most metabolic specialists seek to keep the blood Coenzyme Q level at or above the top normal range. These are questions that are best discussed with your metabolic physician.

Answered by: Jerry Vockley, M.D., Ph.D.

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Q: I am a 58 year old female and was diagnosed in 2002 with Madelung’s Disease. I live in Australia. I have read about Pancreatic Enzymes helping with this condition and wondering what your thoughts were on them. I am diabetic and unable to tolerate insulin; the muscle pain is unbearable. My CK test fluctuates and I wonder what is a tolerable level for mito patients. I seem to have a low tolerance to many drugs. Do these drugs do permanent damage to my muscles, as they seem to be wasting away more of late? Your thoughts on this condition would be most appreciated or if you know where I could find more information.

A: The term "Madelung's disease" describes multiple symmetric lipomatosis usually around the neck and shoulders, so I presume that you have multiple fatty tumors called lipomas. Multiple lipomatosis has been observed in many mitochondrial disease patients and is especially common in patients with the m.8344A>G "MERRF" mutation. I am not aware of any studies about pancreatic enzyme treatment of lipomas in mitochondrial diseases so I do not know whether this therapy will be beneficial for you. Your diabetes and muscle pain must be treated symptomatically. You should avoid a diabetes mellitus medication called metformin, which can cause lactic acidosis. Insulin and most pain medications are unlikely to cause damage to your muscle. Your muscle weakness and wasting may be due to your mitochondrial disease rather than to your drugs. There are excellent mitochondrial disease specialists in Australia so I recommend you consult one of the local experts for further diagnostic testing and treatment.

Answered by: Michio Hirano, MD

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Q: I have a 9 month old son who is diagnosed with a Cytochrome C-Oxidase deficiency (Complex IV). He has a defect in his electron transport chain. He had a "Mitochondrial episode" two months ago that caused him damage to his respiratory part of his brain. Since his "episode" his movement has declined over a month’s period to basically nothing. He used to move his arms and legs and turn his head from side to side. He no longer does this and his eye movement is only up and down. He has also started to just cry out for no reason. He has not had any seizures as of yet. My questions are 1) Is this normal for a child this young to decline in movement that fast? 2) Is his eye movement any form of seizure that we should be looking into more? 3) Could he be having muscle pains even though he has no movement, and if so what are some things that may help with muscle pain?

A: I am so sorry to hear about your young son. To answer your first question, there does not seem to be a “normal” pattern for patients with mitochondrial disease. Decline is common, but certainly not universal. We know that viral illness can exacerbate mitochondrial disease and certainly some patients do degenerate with some having more decomposition than others. I would think from your description, that your son has horizontal ophthalmoplegia, meaning that he cannot move his eyes left or right. Have you repeated the MRI scan to see if there are new lesions within the brainstem? This might account for the new changes in his eye movement. It is not clear that your son is having muscle pain. Crying may or may not be an indicator of muscle pain. If he had a stroke-like event within his brainstem (which could also account for his eye movement changes) then not moving his extremities may be related to this event. His crying may not be related to pain but due to other issues such as irritation, frustration, or other emotions. This needs to be further investigated. Your mitochondrial specialist or pediatric neurology is a good place to start.

Answered by: Russell Saneto, DO, PhD

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