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May 5, 2002


Question from Dallas, Texas, USA:

Two of my three children (ages five and eight) have a mitochondrial disease (at this time unspecific), and about 10 months ago, after playing at the park for a short period of time in 80 degree weather, our five year old daughter experienced an episode that included nausea and vomiting, falling asleep immediately afterward, and then a decrease in consciousness that lasted into the following day. She had shown no signs of illness prior to the event, so we just thought she must be coming down with something. She slept a great deal for the following 24 hours or so, but gradually became more responsive to us during that time. She had perked up some by the following day, but we took her to her pediatrician to be on the safe side. Since we knew she had the mitochondrial disease, the doctor took blood and urine, thinking she'd get a good "baseline" to work with for when my daughter was in a crisis state. The assumption was made that since she was responsive and even moving around a little, things would not be too bad and we could glean something from it. However, the doctor was shocked when she got the results back because my daughter's acetone level was 19.7 (Normal: 0.0-2.0 with 20 being toxic), glucose was low, creatine was low, sodium and chloride were on the bottom of the reference ranges, carbon dioxide was low, and she had major ketone spillage in her urine sample. The doctor felt like the results were accurate and was not sure why my daughter was not in a coma, other than the possibility that her system is so used to being in this state that it compensates, and she doesn't present as badly as she really is. The only information I received from the doctors was that we could never allow this to happen again. They have imposed heat and exercise restrictions on her, and we follow them very closely for fear that she might have another episode of ketoacidosis, and this next time we might not be so fortunate. However, I'd like to understand better what is happening to her, and if there is more we should be doing. We have Ketostix that we used regularly for a while (consistently was no to low ketones present), but no longer monitor them as closely since we were not getting any indications that this is a real problem, although she has always spilled some ketones in the morning regularly. She often has an odd odor to her, and we correlate this with her metabolic system being off, even when there are no other symptoms. Should we be taking these kinds of signs more seriously? If so, what testing should we be doing during these times and how frequently? Does the theory of her system adapting to the abnormal metabolic state sound? Is there any possibility that my daughter actually has diabetes? What testing should be done to be sure?


It sounds like it all was related to an intercurrent illness with relative starvation, and thus ketosis that would make your child get very sick very quickly. Under conditions of stress or any illness, even minor ones, you need to be sure that you can check blood glucose levels and also blood ketone levels.

There is a new meter called Precision Xtra that would allow capillary blood sampling for both glucose and ketones and may be helpful under such circumstances. Any change in consciousness or any change in how your child is acting, increase in ketone levels or decrease in glucose levels should allow you to contact your health care team and make a decision about whether or not the child should have intravenous fluids started and close metabolic monitoring.

You should review this very carefully with your health care team. This sounds like a type of ketotic hypoglycemia picture that we often see with such associated metabolic and mitochondrial disturbances, but this does not sound like diabetes per se.