Re: Pyruvate Dehydrogenase Complex Deficiency/boys vs girls

[Guest guest]

I understand the severity differs greatly male to female- plus the variance of chromosome abnormality?

I don't know anything about PDH except there are several other families on here who have it. But there is a great deal of theory about male vs female with any mito type. The theory is that it affects males harder and faster. However, it does seem to me that there are more girls affected. Makes me wonder about still births and miscarriages in those same families with affected girls...wondering if the boys just didn't make it or something...just thinking out loud.

In my small group of mito mom friends...between the twelve of us...we have 13 affected girls (3 of which have died, all around age ten) and 6 affected boys (2 of which have died... at age six and another at age eight)...anyway...very interesting.

I would love to know what you have heard...can you share?

deb...mom to three great kids and wife to one amazing guy!http://www.lifeofloveproject.org/http://www.heartliftersgallery.com/ Crazy Lizzies!! PURSES!

[Guest guest]

.. The theory is that it affects males harder and faster.

> However, it does seem to me that there are more girls affected.

Makes me wonder

> about still births and miscarriages in those same families with

affected

> girls...wondering if the boys just didn't make it or

something...just thinking out

> loud.

>

I have heard this before and agree...

I have three kids affected two girls one boy and the boy is more

severly affected and I lost a baby boy at 5 months pregnant.

[Guest guest]

Just for the record, I miscarried 3 times and I was far enough along to

be told each was a girl. I have a healthy six year old girl and a 3 year

old Mito son.

Sue Ann

Re: Pyruvate Dehydrogenase Complex Deficiency/boys vs

girls

.. The theory is that it affects males harder and faster.

> However, it does seem to me that there are more girls affected.

Makes me wonder

> about still births and miscarriages in those same families with

affected

> girls...wondering if the boys just didn't make it or

something...just thinking out

> loud.

>

I have heard this before and agree...

I have three kids affected two girls one boy and the boy is more

severly affected and I lost a baby boy at 5 months pregnant.

Please contact mito-owner with any problems or

questions.

[Guest guest]

I don't know anything about PDH except there are several other families on here who have it. But there is a great deal of theory about male vs female with any mito type. The theory is that it affects males harder and faster. However, it does seem to me that there are more girls affected. Makes me wonder about still births and miscarriages in those same families with affected girls...wondering if the boys just didn't make it or something...just thinking out loud.

In my small group of mito mom friends...between the twelve of us...we have 13 affected girls (3 of which have died, all around age ten) and 6 affected boys (2 of which have died... at age six and another at age eight)...anyway...very interesting.

Well, this certainly caught my attention!! As many of you are now aware, after 5 yrs of living with a mito dx. Chelsea was found to have the gene mutation for Rett Syndrome. The gene is called MeCP2, and is located on the bottom of the X chromosome. Rett's is predominantly found in females, very rarely found in males. Females have 2 X chromosomes, and depending on how many mutated vs. nonmutated genes there are in the body will determine the severity of sx.(hmmm. . .sound like mito?) Boys only have one X (and a Y), so Rett's is much more devastating, if the boy survives the pregnancy. Most boys do not survive infancy. There was one case where the boy had 2 X genes, and had the Rett mutation (as well as fragile X syndrome), and he survived. And another case wher the boy was fortunate enough to have very few mutated genes.

It makes sense, that if a boy is much more affected than a girl with the same disorder/disease, that the defect must lie somewhere on the X chromosome as with Rett Syndrome. It was this knowledge, and a family with 2 generations of Rett's that helped lead to the discovery (Rett Syndrome is a sporadic mutation 99.5% of cases).

Any Questions? =)

e, Chelsea's mom, Atypical Rett Syndrome (FKA nonspecific mito)