From Greensburg, Kentucky, USA:
My three and one-half year old has had a terrible problem with body odor for a year. She also had a seizure last week. CT, EEG, and lab work were all negative. Do you think that there could be a correlation between the two? Do you think her seizure could have been caused by hypoglycemia?
I assume that your small daughter does not have diabetes. If she did, there could be a number of explanations for the story.
At the top of my list would be a condition called Trimethylaminuria or the 'Fish Odor Syndrome'. It is inherited as an autosomal, recessive mutation of the gene FMO3. Normally, it is metabolically benign, but that you will need help from a dietitian to begin treatment with a diet that is low in choline, especially eggs and fish. There has been one report from England associating trimethylaminuria with seizures which probably represented another of several variants. If you can get to a University Medical Library, you might like to get a copy of a report by HW McConnell et al in Seizure Vol 6; page 317, 1997 entitled 'Trimethylaminuria associated with seizures and behavioural disturbances' to show to your daughter's doctor. Any dietitian could help you to implement the diet, but, for a specific diagnosis, a urine specimen will have to be sent to a specialised metabolic laboratory preferably one equipped with Mass Spectroscopy. The odor should be controlled by the diet, but you will have to be careful that this does not become a social problem later.
Original posting 11 Nov 2000
Posted to Diagnosis and Symptoms
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