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Mitochondiral Disease vs. dysfunction


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DS's 23andme results interpreted through livewello show 3 homozygous mutations on the NDFUS7 gene. This gene is involved in something called Leigh's disease. This disease is usually diagnosed at birth or within the first couple of years. Children don't live past 6 or 7 but in some cases may live into young adulthood. There have been rare instances where Leigh's disease first starts in adulthood but this is not the norm.

 

Now, since DS is 6 and shows no signs of any real issues from a mito standpoint other than short stature (we have familial short stature) and the occasional overheating due to too much activity (especially when its hot out), is it safe to say that he does not have Leigh's disease?

 

I do think he may have some mito dysfunction which may or may not lead to other issues later in his life, but can i rest assure that he won't be dying from Leigh's disease?

 

I've over Googled this time and no one ever finds good things when you over Google.

Edited by cara615
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