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July 13, 2011

Diagnosis and Symptoms

Question from New York, USA:

When my four-year-old son was acting really sick/tired the other week, I thought it had something to do with his amino acid levels which were elevated before. I took him to the pediatrician and they did a blood test and organic acid urinalysis. His blood test came back fine except for a slightly elevated blood sugar of 159 mg/dl [8.8 mmol/L]. They then did a fasting check at the office; it was 92 mg/dl [5.1 mmol/L]. They wanted to wait and see what his urine test showed, which takes two weeks, before they decided what to do next. His urine test showed that his amino acid levels were fine but that he was in ketosis. His pediatrician sent the results to the geneticist who follows him for the amino acid problem. They decided to send us to the pediatric endocrinologist who did an A1c that was 5.2 and said his sodium level was a bit low in his urine as well. I have no idea why I'm being sent to all these doctors and my son seems to be fine with all the test they run. Am I missing something? Are they worried about type 1 diabetes for no reason? My son will have increased thirst and frequent urination on and off, but it's never consistent. I really don't know what to think. The endocrinologist said to keep an eye on him for increased symptoms. I just don't fully understand what these doctor are trying to figure out.


The original blood glucose level was high so the concern would be his developing diabetes. If this were an early phase, then there might be some times the blood glucose levels would be normal and some times that they would be abnormal. Some amino acid problems and other metabolic problems are also associated with such intermittent glucose intolerance. One may test for pancreatic antibodies (islet cell, insulin, GAD-65 and zinc transporter); if positive, this would raise index of suspicions, but these can be negative about 30 to 40% of the time and will still be early diabetes since the antibody testing is not perfect. Sometimes we ask for home blood glucose monitoring before and after meals to see what range the blood glucose is running. Sometimes we also suggest simple carbohydrate restrictions. It is best to ask your questions directly to the pediatric endocrinologist you are seeing in consultation so that they can give you a more specific answer for your own child. Sequential follow-up and other testing may also help answer such questions. If symptoms change or develop, then you should call them, of course.