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Posted: September 17th 2009

Samantha

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Samantha was diagnosed witha complex 4 defeciency of the electron transport chain, any others out there with this?
cellolover's picture

Sometimes when people say

Submitted by cellolover on Fri, 09/18/2009 - 4:45pm.

Sometimes when people say they have a specific mito disease it falls under complex 4 defeciency. I can't remember for sure, but I'm thinking MELAS is a complex 4 disease (someone correct me if I'm wrong). Welcome to the site!
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Rachel- I have abnormalities in Complex I,II, and V. I also married a wonderful man on June 5, 2010.

I am not sure if they have

Submitted by Samantha on Fri, 09/18/2009 - 8:06pm.

I am not sure if they have given her a specific diagnosis but she has been worked up through genetics and metabolic and finally the muscle biopsy which showed the complex 4 defeciency but not much out there with what that entails or how many kids have this problem. Just starting my search, lucy that we are in seattle witha mito specialist. And thank goodness there is a site like this

I believe MELAS does

Submitted by arktjk on Fri, 09/18/2009 - 9:53pm.

I believe MELAS does typically involve complex 1 and 4 although not everyone with deficiencies in comlex 1 and 4 have MELAS.
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I believe her complex 1 was

Submitted by Samantha on Sat, 09/19/2009 - 4:47pm.

I believe her complex 1 was fine because her coQ10 levels were within normal. What age did you know Abby had a problem, cause most people don't know there is an issue with Sam except for her gait, but she has a lot of little issues with chewing, high muscle tone , reflx, aspiration etc. Falls a lot wears othotics but cognitive function wnl at this point.