ketotic hypoglycemia? cartinine deficiency?

Libby - posted on 07/24/2010 ( 1 mom has responded )

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Hello! My son is almost three years old and has had seizures since he was 9 months. He's had a lot of other issues like ataxia, cyanosis, lethargy, and weakness. We recently saw a biochemical geneticist at Riley Hospital in Indianapolis, IN. He diagnosed my son with ketotic hypoglycemia and also thinks there may be a cartinine deficiency. He said it's possible he might have mitochondrial disease, but is going to hold off testing for it just yet.

Does anyone have any experience with ketotic hypoglycemia and/or cartinine deficiencies--tied with seizures? It seemed like for so long that something wasn't right, and the neurologists kept saying he was even more "special" than most of the kids they saw. It feels great to finally feel like we have a diagnosis, but at the same time I'm not sure it makes complete sense....

Thanks for any input!

-libby

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Kristie - posted on 09/19/2012

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Libby, This is interesting... My son has the same type of thing... He is carnitine deficient, has an "un named" Mitochondrial disorder and Ketotic hypoglycemia. He also has Periventricular nodular heterotopa... :/ which causes his seizures... Im so sorry. I remember being where you are at. It has been a long struggle for us, and today... Im googling articles because... he is ketotic again today.. :/ Hugs for you and your family!

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