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March 13, 2019

Diagnosis and Symptoms, Ketones

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Question from Sioux Falls, South Dakota, USA:

The past few days, my child had occasional fruity-smelling breath, sometimes strong. We had this happen before, a year or two ago, and we checked her via Ketostix, which was high. But all the levels were fine (negative ketones, glucose in 80s) when we got her to a doctor. No diagnosis and no leads. Now that it is happening again, we got some Keto-Diastix. Readings from today: This morning at waking (7 a.m.), urine ketones register 5 mg/dL (before breakfast) and peaked at 40 to 80 mg/dL at 9 a.m. (before snack), then returned to negative thereafter for the rest of the day. Glucose has never registered on the Keto-Diastix. This morning we also got a fasting glucose reading at a pharmacy, which was 52 mg/dl[2.9 mmol/L].

She eats a typical or large amount for her age, sometimes almost as much as an adult (more than 500 calories per meal). It appears she would just keep eating if we were to let her. We don’t eat many sweet things but a typical amount of starch – cereal for breakfast, bread with sandwich, etc. She used to be in the 90th percentile weight for age; six months ago she was in the 75th percentile, and now she is in the 45th percentile. She is starting to show some other symptoms in addition to the fruity breath: lethargy, trouble focusing, possibly some blurry vision. Considering that the symptoms (and, apparently, the levels) can come and go in a matter of 30 minutes, we are wondering how to get a good evaluation. Should we be asking for a home glucose/ketone meter? We have a direct access laboratory available; are there particular tests we should have run when the symptoms arise? Is there a particular type of doctor that we should be seeking?

The family has no known history of diabetes other than the paternal great-grandfather, who acquired type 2 late in life. However, the mother does have Hashimoto’s thyroiditis. We are puzzled that so far there is never a high glucose reading. We would appreciate any direction or next steps so we can arrive at a proper diagnosis.

Answer:

It does not sound like diabetes with glucose levels checked and normal or low. Could be some type of hypoglycemia situation, glycogen storage disease, or adrenal insufficiency. Important to know something about weight and height since you mentioned weight is dropping without cutting calories so this does not make sense unless something else is unbalanced to explain. What is happening to height during this same time that weight is dropping? This can provide some clue. First thing, check blood glucose levels before and about 1 hour after usual meal. Ideally, fasting blood glucose should be in the 70 to 90 mg/dl [3.9 to 5.0 mmol/L] range and can go up to about 120 to 130 mg/dl 6.1 to 7.3 mmol/L] one hour after food. With some anxiety/stress of blood testing, may be a bit higher. If those are about the range you get, then this is not diabetes. Hyperthyroidism, adrenal insufficiency and glycogen storage diseases can present with unexplained weight loss but physical exam and height evaluation may give some clues as to what else needs to be checked: thyroid, adrenal, liver, for example. If your primary healthcare provider says everything on physical exam and screening labs are entirely normal, then consultation with a pediatric endocrinologist would be in order next.