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Re: Mitochondrial Disorder

Posted By Laura on November 05, 1998 at 11:05:26:

In Reply to: Re: Mitochondrial Disorder posted by CCF Neuro[P] MD, RPS on November 03, 1998 at 13:52:06:

I just recently received a diagnosis of mitochondrial myopathy.  They have not located the gene, but further DNA testing is being done.  I have many things that were noted from the fresh muscle biopsy performed by Dr. Shoffner in Atlanta.  For brevity sake, I will limit explanation to a finding of complex 1 and complex 3 defects.  Complex 1 and 3 assay abnormal and complex 2 and 3 assay at the bottom limits of normal.  My family history is very complex.  Several geneticists have been involved in the past and did catch the mito possibility.  I have a 30 yr. old brother with severe mental retardation, up to now, of unkown cause.  I have siblings whose children have had multiple birth defects including; ASD's, VSD's, mitrovalve prolapse, coartctaion of the aorta, learning disabilities and one child with severe limb defects.  My children have sleep apnea, asthma, and digestive system problems.  Maternal line includes diabetes, seizures, stokes, multiple neurological problems, dementia and hearing loss.  
I feel like I have been on a journey for the last year.  I have been in and out of several MS clinic, the Cleveland Clinic, and specialty doctors offices.  The Cleveland Clinic ran testing (urine and blood) looking for a mito disorder and told me that it came back negative.  I further researched mitochondrial disorders and was refered to Dr. Shoffner who did the biospy in August.  Prior to the biopsy, my geneticist insisted that it wasn't mito.  A very arrogant MS specialist also told me to stop reading about mitochondrial disorders because that is not what I had.  I understand that we are dealing with a rare disorder and I am not trying to flame the doctors.  I need to find a doctor who I can work with now that I have a diagnosis. I live in Pittsburgh and would appreciate any information on what type specialtist to see ( metabolic? geneticist?)
Also, I have read about the MELAS syndrome and I am wondering if complex 1 and complex 3 defects would be something possibly seen with this syndrome.
Thank you,
Dear Laura:
I am sorry to hear that you have complex I and III deficiency.  What is worrisome to me is that we here at the Cleveland Clinic did not treat with respect that all patients deserve.  Forgive us!  As you probably know from talking to Dr Shoffner (we send the majority of mtDNA to him for analysis) that mitochondrial disorders are very difficult to diagnose. Just doing an urine and plasma and having normal results does not rule out the possibility of a mitochondrial disorder.  It depends on when you do the assay.  If you are not stressed and are in need of carbohydrates, then your lactate, pyruvate and acylcarnitines would not be elevated.  In some cases, only the muscle biopsy will give the diagnosis and even that can be falsely negative if the sample is not fresh or due to heteroplasmia.  As you know the diagnosis of mitochondrial disease depends on a constellation of symptoms.  Unless one is thinking of mitochondrial disease, it is easily missed.  As Dr. Shoffner probably told you, most of the proteins in the mitochondria are of genomic origin.  Thus, many of the mitochondrial disorders follow more traditional genetics.  Those proteins that are made in the mitochondria will have a maternal lineage.  About MELAS, most of the lesions associated with MELAS have been in the tRNA.  It can be associated with complex I and complex III deficiency.
I work along with Dr. Bruce Cohen, who is the mitochondrial expert here at the Cleveland Clinic.  He, as I am are in the division of pediatric neurology and not the Mellon Center (MS).  We see adults as well as pediatric patients with mitochondrial disorders.  We have an expanding population of mitochondrial disorders that we manage.  It doesn't sound like (I really hope not) either he nor I saw you during your last visit.  We would be happy to see you and help manage your condition.  You must know that treating mitochondrial disorders is still in its infancy. There are several places that treat mitochondrial disorders.  The ones closes to you would be in the northeast, Boston's Children's-Harvard, and Columbia-Pres in NYC.  
Again, I am sorry that you have face such difficult doctors.  Let us know if we can help.  The website for mitochondrial diseases is located at: http://biochemgen.ucsd.edu/umdf
CCF Neuro:Pediatrics MD, RPS
Thank you very much for your response.  If it makes you feel a little better, I was not seen by you or Dr. Cohen when I came to the Cleveland Clinic.  I was seen in general neurology and refered to the Mellon Center from there.  
I would be interested in how I can make an appointment to be seen by you or Dr. Cohen.  My children have been refered to a Dr. Bay through Children's Hospital in Pittsburgh.  I have been told that she works with pediatric cases of mito.  Can you tell me if you have heard of her? Also I was wondering if you have a name for a doctor in Boston.  My mother lives in RI and has recently gone completely deaf, along with many other neurological symptoms.  They have been sending her to an MS specialist and then did a complete work-up for Lupus, Lyme, etc. (Ofcourse they haven't been able to give her any of those diagnosis)  She is very sick right now and I know she needs to be seen by a mitochondrial specialist as well.  Any help for would be greatly appreciated.
Again, thank you for your response.

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