Hello all!

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:
http://web.archive.org/web/200203192...ML/000356.html

If you would like to read other posters on this subject using the Wayback Archives use this link:
http://web.archive.org/web/200202191...000&LastLogin=

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:

Here is a paper on pyridoxine deficiency--
http://www.emedicine.com/med/topic1977.htm

this article has a good list of "safe" drugs and "unsafe" drugs for
porphyria:
http://www.emedicine.com/med/topic1977.htm

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.

Mrs. D

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.

purple pal

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.

My symptoms:

-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.

Dear Kira,

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!

purple pal

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)

Michael,

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

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.

Hi,

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.

Thanks!

My family is experiencing an extremely rare disorder called Genetic Beriberi. Are there any other families out there with this condition?