Saturday, March 5, 2011

Ongoing glucose utilization in the absence of an ability to use ketones as an energy source

I'll get to the title of this post in a bit but first:
We are home! He is doing fabulous!

 GI rounded on him this morning and said he had a sever case of gastritis. He is going back on Carafate, taking Mylanta 3 times a day and his Prevacid was doubled. All of that should heal his stomach in 2-3 weeks. The cause is still under investigation, and the biopsies of several sites in the stomach should help us out there. Appt. with them on Tuesday.
Hematology ordered some more bloodwork this morning and he is neutropenic again. That was a great two days without neutropenic precautions in the hospital! Appt. with them on Monday.
This is where it gets complicated. Your amazing body has 3 separate processes for getting the energy it needs. First, sugar that comes in through the food you eat provides the primary source of energy. Any excess sugar gets stored in the liver, and when liver stores are sufficient, as fat. Second, when you have burned through all readily available sugar your body releases glycogen (the stored sugar) from your liver. In a normal person these stores can last 18-36 hours. When the stores are critically low, the brain signals the liver to save what's left and move to phase three. The third phase is using fat as fuel. Your body brakes down fat into energy, particularly a by product of fat metabolism called ketones.
When you enter this phase you are in ketosis, your body uses those ketones for energy and your blood sugars stabilize. This is the state that people on the Atkins diet are aiming for. You burn through fat stores and can remain in this state as long as you have/and or consume a lot of fat. (If you are still with me - God bless you - and we trod onward!)
Tomas has two large issues going on. He is moving into ketosis way too fast, after only 2-3 hours of the second phase. Then, he does not use what ketones his body is making (the absence of an ability to use ketones as an energy source), so he keeps burning through those glycogen stores (ongoing glucose utilization) and his blood sugar keeps dropping, within 4 hours he is in a severely hypoglycemic state. His body wants that to stop ASAP so it keeps making ketones. If left untreated, his blood sugar would hit zero, he would make way too many ketones (which are an organic acid) causing his blood Ph to change, his brain would be damaged from the lack of sugar, and eventually he would die.
It is a metabolic disorder (ps - one of the causes of gastritis is a metabolic disorder) called a Ketone Utilization Defect and the doctor told me this morning it is "really really rare". She is going to do some research and then I meet with the Endo team on Wednesday. She gave me strict orders that Tomas is not to go more than 4 hours without food, it could be a very dangerous situation for him.  She also told me that she is not aware of a "cure", other than to make absolutely certain the body has readily available sugar for energy.
I am thanking God that Tomas got a feeding tube at 2 days old making it a breeze to control his feeding. I am thanking God that he has a GJ tube, so when tummy bugs hit (or gastritis for that matter) and he doesn't want to eat, I can still get food into him via his intestines. If any of that should fail he would need to get to a hospital for IV glucose.
There are a few different kinds of ketone utilization defects and they are going to try to figure out which one he has, and if any dietary changes will help alleviate his issues. None of this bothers me as much as you would think. I have known for so long that something was wrong, and to have people pay attention and want to help is a huge relief.
Thanks for tagging along on this crazy roller coaster ride!


  1. Isn't it a fabulous feeling to know what the hell is going on and then be able to "deal" with it?! So glad you have these answers. Amen!

  2. Even if it is really really rare, just know would be wonderful news!!

  3. Thats what they do when you are on the ketogenic diet for seizures. They put your body into ketosis. A formula that is all fat, zero sugar. Jax blood sugars were average 50 all the time. Made me nervous though because low blood sugar is what caused his brain injury in the first place!
    I'm glad they are making progress though!

  4. Dorothy my friend, THIS is why it's so awesome that you homeschool. You are a born educator. I read this a few times, determined to get it. Then had THE most fascinating conversation with my work friend, he has a 4 yr old with Type I diabetes. He knew of ketones, and for them it's bad news and means high BG, but this helped us understand why! I'm so fascinated to connect the two, and understand this all a bit more.

    Ok, since it's not all about me - oh thank goodness they figured something out! That GJ is a dream for Tomas, and it just feels like it has to be downhill from here. I totally understand the idea of Now it has a Name, and you can treat it. It's not like you were in the dark about something being wrong! I will continue to stalk your blog for updates and info.

    Give Tomas big hugs and kisses from us!