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February 10, 2011

Diagnosis and Symptoms

Question from Northern California, USA:

I would be really appreciative it if you could think of what other medical problems could cause my son's symptoms: fruity breath, frequent urination, increased thirst, slow weight gain, headaches. This has been going on for close to two years and we have not received a diagnosis. The stress of not knowing is very difficult. My son does not look healthy and doesn't feel well, obviously. We have seen a pediatric endocrinologist twice in four months. My son's A1c was 5.1. We have caught numbers at home consistently in the 140 to 170 mg/dl [7.8 to 9.5 mmol/L] range up to two hours after a meal. One fasting was 100 mg/dl [5.6 mmol/L]. The pediatric endocrinologist feels that he may develop diabetes down the road but nothing can be done now. I was hoping to monitor his blood glucose more closely to try to catch any highs he many be having. So, for now, we are just at a standstill. As of now, the next plan is to do another A1c in February. So, back to my original question. What could we be overlooking? Is there any other condition that could be causing these symptoms? His breath is so smelly that it almost makes me sick at times. I have two other healthy kids so I am able to compare. Also, we are a very active family. He gets a lot of exercise.

Answer:

For sure, you are not describing someone who sounds very healthy. Fruity odor on the breath usually indicates some metabolic derangement associated with burning body fat – thus ketones being excreted. So, the list of possibilities should focus on that fact. Is your son losing weight? I assume that your primary care provider, as well as the pediatric endocrinologist, have done a series of general testings, sedimentation rates, chemistry profiles, thyroid and adrenal functions, liver and kidney tests. That would be useful to know if they are all normal. The blood glucose levels you describe are definitely abnormal but do not sound consistent enough to make a diabetes diagnosis. Antibody testing would be helpful to know if they are positive (islet cell, IA2, GAD-65 ZnT8), since this would increase the risks of this being early form of diabetes, if positive. There are also some other rare metabolic conditions that should be evaluated, either by the pediatric endocrinologist or someone who specializes in metabolic problems or genetic problems, to include the evaluation of fatty acids and amino acid levels.

SB