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Urine Odor

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Question

My son has been having an odor in his urine. I took him to his medical doctor and his urine test was negative for infection. The doctor said it could be metabolic having to do with CdLS. Has any other person with CdLS had this problem?

Answer of our experts

Strong urine odor is not a common problem in CdLS and there is no metabolic reason in CdLS for it. Some children have strong urinary odor, and it could be due to a number of things: urinary tract infection (which it sounds as though they have ruled out), dehydration (with increased concentration of urine), ingestion of certain foods (e.g. asparagus or garlic), or an inborn error of metabolism (some enzyme deficiencies can cause a particular odor such as maple syrup, mousey smell, rotten feet, etc.) which would be unlikely to present later in life. If there is concern about the latter, urine could be sent for organic acids and amino acids.

TK 7-13-10

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