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mytohondrial disease?
My little niece is 1 month old. 3 days after birth she had 2 general convulsions (less then 1 minute), witch have not repeated. She was for a week on phenobarbiton. In her urine were found highly elevated oxoglutaric acid and traces of lactate and fumarate in blood is only little decrease of gycine. Other blood paramethers are in normal range. Otherwise she is doing just fine, she is not hypotonic, dosent have toubles with breathing or any other kind of problems.
Could this be mytohondrial disease, or something else?
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mytohondrial disease?
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