Pediatrics/Urea cycle disorder
QUESTION: A 2 year old girl has been recently diagnosed with urea cycle disorder due to high blood ammonia , lactic acid and cystine , the tests have been returned to normal following dietary protein restriction and lactulose syrup.now she is on biotin , L carnithine .she has history of breath holding spells since her birth and takes Na Valproate as well.her teeth are easily broken and looj fragile.
what are other recommendation and good advice for her ?
Thanks and Regards,
ANSWER: Hi, Masoumeh,
I am curious why she is on an seizure med for breath holding spells. Even if one has a seizure with a BH spell, generally this is benign and not treated. Does she have an underlying seizure disorder that is independent of the BH spells?
It sounds like you are in good hands with the handling of the urea cycle disorder. This is something that I, as a pretty good pediatrician, always refer to an expert,
Good luck, Dr. Olson
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QUESTION: Dear Dr Olson,
Thanks for your kind attention.I am a GP and this girl is my friend s daughter.She has been on seizure med due to occasional attacks as her mother mentions .I have tried to provide guidance for expert referral due to her condition and interstingly I found out that Na Valproate is contraindicated in patienrs with urea cycle disorder , now I am waiting for the result of a neurologist visit hopefully in next week because the complicated condition of this child has been somewhat missed by her treating doctors and the skilled and wellknown experts here in my country are not easily and quickly available .she has been visited by many specialist so far and still an ultimate treatment plan has not been reached yet her family is doing their best.
Thanks and Regards,
Thanks for the clarification. I suspect if she has the standard breath-holding spell with subsequent seizure and that is the only reason for her to be on the valproic acid, then most of us would take her off this med, for the seizure due completely to a BH spell is benign and something we virtually would never treat. Sounds like she is in good hands, with you and the metabolic experts.
Wish you well, Dr. Olson