View Full Version : type of metabolic/mitochondrial condition?
11-10-2006, 07:09 PM
I'm wanting to get a little action going here, so how about we start with introductions? What type of metabolic/mitochondrial conditions are people dealing with? How does it present?
As for me, I have hereditary coproporphyria, or HCP for short. If you are not familiar with it, it is a very rare genetic blood disorder. When my disorder is in full tilt, I have the most severe abdominal pain you've ever had, and then multiply it by four. During an "attack", I also get tachycardia, chest pain, nausea and a headache, but it's the abdominal pain that predominates. My most severe attack required hospitalization, and I have suffered from neuropathy (mainly in my lower abdomen) ever since. Although, in the last three months, it's nearly gone.
I'd love to hear from others...
Wendy in Wisconsin :)
You know we had a porph board at OBT. And one gal there with porph and
neuropathy (she used to post on the PN board there).. took my advice about
using B6 activated version called P-5-P and she had remarkable improvement.
Some people cannot convert pyridoxine in vitamins to the active form (this occurs in the liver).
So P-5-P bypasses that. You do not need huge doses...50mg/day is usually enough.
here is the link to her supplements that worked for her:
If you would like to read other posters on this subject using the Wayback Archives use this link:
OR try the home page and type in Braintalk.org into the engine and load only the old dates up to 2003. Many pages are NOT archived, and the engine is slow...so I found one that worked for you in the link above. That link goes up to 15 pages and you can try to click on them. Don't expect everything to work.
Here is another paper:
1: South Med J. 1991 May;84(5):668-9. Links
Acute intermittent porphyria with atypical neuropathy.
* Goren MB,
* Chen C.
Department of Medicine, Fairfax Hospital, Va.
The patient we have described had lower extremity numbness, paresthesias, constipation, urinary retention, and sexual dysfunction. Laboratory evaluation confirmed a diagnosis of acute intermittent porphyria (AIP). Vitamin B6 and glucose therapy initiated resolution of symptoms. The sensory neuropathy described here is unusual, and we believe sexual dysfunction is a previously unreported manifestation of AIP.
PMID: 2035100 [PubMed - indexed for MEDLINE]
Here is a paper on pyridoxine deficiency--
this article has a good list of "safe" drugs and "unsafe" drugs for
I hope this helps....you don't say what you are doing currently for the porph, so I thought this might be helpful for you.
11-14-2006, 07:52 PM
Thanks for the links. I'm working on developing a relationship with my doctor, and would like to have my vitamin levels tested. She's pretty much the SOP type. As for other porphs, I'm a member of two other online groups. I'm wanting to hear from other people who have metabolic disorders.
I have a metabolic myopathy that they are thinking is mitochondrial. ("They" = metabolic doc, 2 neuromuscular docs). I am going to get a fresh muscle biopsy with Dr Shoffner in Atlanta in the near future. This is the "gold standard" for diagnosing mitochondrial myopathies, I guess. I had a frozen muscle biopsy a couple of years ago, but it was done incorrectly and also was never sent for any of the mito stuff, so we have to repeat the biopsy to pin down the diagnosis. The frozen biopsy was abnormal but in non-specific ways (type 2 fiber atrophy, lipid droplet inclusions, etc). Some of my labs point toward mito, and definitely point to a metabolic myopathy of some sort. We are just trying to pin down the specific broken enzyme.
-Recurrent attacks of rhabdomyolysis, often very severe. My record CPK is 109,000 (normal is 0-125).
-Smaller attacks with severe myalgias, muscle weakness, and myoglobinuria without big elevation of CPK
-Daily background pain in most muscle groups, requiring me to be under the care of a pain management doc and on opiates in order to have some semblance of function/life back.
-Muscles shaking, cramping
-Frequent myoglobinuria, which means there is myoglobin (a product of broken-down muscle tissue that is similar to hemoglobin and toxic to the kidneys) in my urine. The symptoms of this are dark urine (red/brown/black) and positive urine dipsticks for heme with few red blood cells seen on UA.
-Some amino acids, such as 1-methyl-histidine, elevated in blood and urine. Ketones frequently elevated as well. Reducing substances seen in urine.
-Metabolic acidosis from intermittent proximal renal tubule dysfunction. This also can mess up other electrolyte levels, such as potassium and magnesium.
-Mild cardiac issues: minor EKG abnormalities, persistent tachycardia, history of a pericardial effusion.
-Mild neuro issues: hyperreflexia, positive Babinski's on left foot, positive Hoffman's on both hands, patchy paresthesias from time to time, myoclonus, fasciculations, high tone in legs
-Mood issues: become very irritable and anxious when metabolically decompensated and in the days following an attack. Doctors were trying to figure this out and called it all different names of mood disorders, anxiety disorders, etc (and tried the corresponding meds), only to discover that it really only happens like this when I am sick or just getting over being sick, and so now we focus on treating the underlying metabolic "mess" instead of on treating the mood/anxiety symptoms so much.
-Anemia: may or may not be related to the metabolic disorder, but has been resistant to treatment with high doses of iron by mouth. We are trying to come up with a plan for wht to do next. It is not bad enough to need a transfusion or anything like that.
12-07-2006, 06:21 AM
Thanks for posting about your metabolic myopathy. Even though we have kinks in different enzymes, it's interesting how they can have affects in most of the same systems in the body. I'm glad that you are close to getting the official word of your diagnosis. It sounds like you have a great attitude as well. Thanks for sharing!
03-12-2007, 01:09 PM
I have a genetic defect that effects my metabolic system which, in turn, causes thinning of my brain's myelin. When it got past a threshold level, I got virtually all of the MS symptoms with a month or two. I am diagnosed with an adult leukodystrophy (unknown type). My brother has it too. My older sister has more damage but no symptoms. She's of the fat myelin, we say, and ought to diet (a little black humor)
03-18-2007, 08:00 PM
Thanks for sharing your story. I've heard of leukodystrophy, but I'm not familiar with the specifics. Did your brother get it as a child? Does it present differently in adulthood? What kind of treatment do they have for it? Is it similar to the disease that was presented in "Lorenzo's Oil"?
purple pal :winky:
03-19-2007, 06:17 PM
Purple pal, boy I missed your questions but am happy to answer those I remember. Leukos are a family of diseases, all inherited, ranging from the Lorenzo Oil type (which is the most common leuko) to a vascular type. They all damage myelin. Mainly they are children's diseases, which carry short life spans. In general the adult forms are fatal too, but slower in development. In my case, it doesn't make any difference, I got it at age 59. I have two brothers and one sister that have it.
Those who get leukos have about a 30 percent chance of being diagnosed, those who are undiagnosed form the 2nd largest pool of people with myelin damages. The first, of course, are those with MS.
NIH started a research study in 1997 to catalog and find the causes of those with undiagnosed leukos. The wanted to study 400 people. I just applied... and, yes, they still are accepting people 10 yrs later.
One of the interesting leukos is Alexander Disease. Over the past 50 yrs 30 adults have been diagnosed world wide. A veterinarian at the University of Wisconsin is the nation's leading authority on Alexanders. He was able to develop the disease in mice, so that it could be studied. The gene that causes Alexander Disease plays an important role in nerve repair, so the Vet, Albee Messing, has been given a large NIH grant. If he masters Alexanders Disease, medicine is a step closer to solving how to repair damaged nerves.
This has been a fantastically interesting disease for me to be stuck in the middle of. My father was a Mayo Clinic neurologist who made some of the early important discoveries with MS. He was disabled with rheumatoid arthritis very early in his career, but was one of the first patients involved in the discovery of cortisone. He also consulted on Lou Gehrig when Lou fist came to MAyos and my father was first to suggest he had AlS, so I feel that I have neuro links in many places.
My son is disabled with bipolar, and I have been very active in those circles. My wife is also disabled, so we are the disabled family. I thank my father for being such a good role model for me, he has been my inspiration throughout. and, no, there are no treatments. Sorry for the long post.
I am trying to decide the best location to go for a better diagnosis of my metabolic myopathy. I have had biopsies in 1983 and 1999, which found some abnormalities but did not provide a specific diagnosis
beyond metabolic myopathy, possibly mitochondrial in origin.
My condition has worsened the past few years, although I still function fairly well. My 6 year old son has recently showed up with myoglobin in his urine, which has provided the impetus to better sort things out.
I have narrowed down going to Washington University in St Louis (Dr. Pestronk), Presbyterian Hospital of Dallas (Dr. Haller), and Horizon Molecular Medicine in Atlanta (Dr. Shoffner), based on a search of the relevant medical literature.
Has anyone had experience at these locations, or other to recommend. I am particularly interested in a location in the South East, if possible.
04-10-2007, 08:30 PM
My family is experiencing an extremely rare disorder called Genetic Beriberi. Are there any other families out there with this condition?
04-26-2007, 10:07 PM
Hi JC! We don't know yet if we have genetic BeriBeri. I was diagnosed three weeks ago with BeriBeri and my daughter was diagnosed today. The doctors are trying to figure out how to get us a prescription for the shots and appear to be a bit befuddled by the whole thing.
As of now, my mother is highly suspect as is my son. If they also have the disorder I think we may be looking at a genetic factor.
One thing that complicates the situation is that we're all gluten sensitive. Right now the assumption is that the trauma to the gut made it difficult for us to absorb B-1.
I suppose it'll all work out in the wash. Another month or two and we should have some answers.
I wanted to answer the question about getting a dx for your metabolic myopathy. I have not met the other two doctors you mentioned, but I got my Dx from Dr Shoffner in Atlanta (Mitochondrial Cytopathy, defects in Complexes I, III, and IV). Dr Shoffner was very thorough and is pretty well-known in the mito world as being the guy to go to for your dx. I am not sure who is the best for looking at the other metabolic myopathies, but I do know that Dr Shoffner knew a lot about them b/c we sent my biospy for the fatty acid oxidation defects, repeated my testing for the glycogen disorders, and sent it for some structural protein defects that I had never even heard of (in addition to the OX PHOS testing for mito. I do know that you need a fresh (not frozen) biopsy to diagnose mito, but many of the other metabolic myopathies can be diagnosed from a frozen biopsy. My frozen biopsy was inconclusive but my fresh biopsy was positive for mito on two different tests and also showed some indirect signs of it on two more tests.
Dr Shoffner is very busy, so it takes a few months to get in to see him. They will want ALL of your medical records, imaging, etc (he reviews it all before you come). You go to Atlanta for three nights and two days... get there the night before and then see him in clinic the first day, get your biopsy the second day, and go home the morning after your biopsy. He takes a lot of time with you in clinic at that first appointment. The biopsy is done at a hospital in Atlanta (Scottish Rite for kids and Northside for adults) by a surgeon. They give you sedation and local anesthesia for it, stitch it up, and it is no big deal. It took several weeks to hear back from him about the results. I was able to get my insurance company (an HMO) to cover it by getting a few of my local, in-network doctors to write letters saying that they don't have the facilities to do the fresh biopsy, which I needed based on a strong suspicion of mito. I have been hospitalized with rhabdomyolysis and metabolic "crashes" many, many times in the past few years, though, so my insurance company probably was able to see how a dx would save them money in the long run. It took a lot of pestering to get insurance to cover it, but they did cover it eventually. Dr Shoffner's office will help you with the insurance stuff if you want them to. I think it was well worth it.
09-27-2007, 02:59 PM
I'm happy to find this forum. I'm still playing "Name That Disorder," myself, but hoping to find some answers soon. The best guess at the moment, after ruling various other things out, is that I have some sort of metabolic myopathy. I'm going in for a referral at a specialist institute but not until December.
Until then, I'm trying to cope with how to deal with my fatigue, which is my main symptom. I find it hard to explain to people, when I can do just about anything, but I can really only do about one thing per day (a choice between a few errands, a little work, or the gym for some absolutely crucial weight-training). And of course I look fine. In fact, I look great, because I've been lifting weights!
The hardest for other people to understand, though, and the one that makes me feel the loneliest, is that I get really tired smiling at people or even looking interested in what people are saying. My facial muscles just can't keep up. Though, I also can't completely blank out my face when I get tired; the social instinct to express things in my face is just too strong. Anyone else have this one?
10-22-2007, 01:52 PM
Recently diagnosed with a metabolic myopathy. The rheumatologist's comment was "there's no cure or treatment, so it dosen't matter what kind you have". ???!!!
After reading more about the types, it seems like it's important to know which type you have.
Can anyone help me with this? How do I push the Dr. to go further with the diagnosis? Can the type be determined with a blood test, or only a muscle biopsy?
From what I've read, it's probably CPT or McArdles.
Thanks for your help.
11-09-2007, 04:52 AM
I'm new, I suffer from mitochondrial cytopathy (myopathy?). I think my mother siad its respiratory chain deficiency type 2 & 4...but don't quote me on that. Never really cared much in the past exactly waht was wrong - I know what I can and can't do, when I ache and hurt, so why bother with details? I think now I want to know a bit more, and just be with like-minded people. It can be hard having something rare - people stare at me blankly when I explain what's wrong with me. Didn't realise exactly how rare it was!
For both the last posts in Oct/Nov 07 , its hard to think of where to begin. Yes it does matter what form of myopathy you have, there are no cures (with some niche exceptions if you have CoQ10 deficiency for example) but there are steps that can be taken to optimize how you feel and do (diet, exercise, supplements all carefully regimented-these have helped me). These conditions are very difficult to diagnose, and ideally you need to see an expert, someone active in clinical work and research. Knowing exactly what is wrong will help identify exact supplemements, diet, etc changes to make, they won't cure you but could help.
I would suggest seeing Haller in Texas or Pestronk in St. Louis. Cleveland Clinic (especially for CPT, joint institute with Case western University), Mayo, Mass general are also good choices. url’s below. I was able to get my insurance to pay in network for this (texas referral), based on their unique expertise.
I have had 3 biopsies over the years, one at mass general as a teenager 25 years ago when problems first appeared, one about 9 years ago with a local doctor, and this past summer with Haller in Texas. Although I had a previous diagnosis of a nonspecific metabolic myopathy (suspected mitochondrial or glycogen storage disorder), the exercise testing Haller put me through did not show evidence of this, so I am back to the drawing board. I would still highly recommend seeing him. All three biopsies have shown abnormalities, but generally mild and nonspecific.
My problems are muscle cramping on moderate exercise, and the past few years, muscle pain and fatigue, fluctuating depending on activity level and pretty bad at times. One thing that has helped me is that I have developed some thyroid and pituitary problems, possibly in parallel with the myopathy issues that were significantly affecting my well being. Now that those are under control, I am doing better. I would therefore also recommend seeing an endocrinologist for a full check, often times chronic disease can suppress pituitary function, etc and lead to other problems.
In addition to the texas and St Louis doctors, below links are for glycogen storage and mitochondrial issues, and Cleveland clinic.
01-25-2008, 08:29 AM
My sister had a hip replacement a few years ago and developed what appeared to be a fat embolus. It wasn't. Her symptoms were fatigue and respiratory difficulties. After a couple years of various testing and muscle biopsy, she was diagnosed with acetyl l-carnitine palimitotransferase deficiency (effecting complex 3, and long chain fatty acid metabolism). I have neurological problems suspected as being MS, but my MRI has been stable.
I get muscle fatigue with exercise.
I don't know whether this recessive mitochondrial definciency might be part of my peripheral problems as I have not been tested for this.
02-06-2008, 10:49 AM
I just had a muscle biopsy and it said I may have a cox-deficient type of mitochondrial disease as well as atrophic myofibers. But some fibers stained more strongly. I have bilateral frozen shoulders (which just are not getting better) and proximal weakness. If I exercise - like going to a store or something, I basically fall asleep later, exhausted. I am waiting to hear from my neuro.
looking for answers
09-01-2008, 06:41 AM
Hello, I am new to this site and have been fervently searching for medical answers. I came across your question. We also are investigating genetic beriberi. Have you found any further information on this and would you mind sharing? What are your symptoms?
Thanks, anything you can share would be appreciated
looking for answers
08-11-2010, 09:06 AM
I'm very new to posting on this site, actually this is my first time, but I have been reading "Threads" for about a year now just trying to maybe find a answer to all my issues. I knew deep inside there was something just a little different than what the Dr's where trying to throw at me. Finally one day I went in to see a new Neuro doc and he said he thought I had what was a rare genetic muscle Disease that he knew nothing about. So while waiting on the results of my first blood test I starting doing as much research as possible. While doing so I found most info was very vague not alot of hard evidence! But I could remember reading on this site and there were a few post that symptoms seemed so much like mine. I couldn't locate those exact post so I decided to register and tell my story so that maybe someone else won't have to suffer or even die just cause there is so little known about Pompe Disease. I have not started my treatments yet cause that alone has been a nightmare itself. There has been so many delays that I feel like Im gonna die before I finally receive the enzyme therapy that is needed on order to sustain life!! Well that is some what my story, but I have so much more to ask and say. Smile
I hope I'm doing this correct.
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