Thanks for the question. He continues the IV vitamin therapy but is also on oral feeds.
David Campbell
5 years ago
Very interesting thank you. Was the biochemistry suggestive of impaired fatty acid oxidation? i.e. abnormal acyl carnitine profile?
The choice of vitamin precursors is interesting, I wonder if you could point me to why these were chosen and not others?
Thank you.
Thank you for the question. The metabolic profile was normal, this included amino acid profile. The vitamin therapy was based on the the three pre-existing literature cases (see references) that had relative success on treatment with these vitamins. The SLC5A6 gene was known to code for the SMVT transporter and the vitamins given parenterally were those effected via the knock off of this transporter. I hope this answers your question!
an interesting case. Could you comment of there was any improvement on parenteral support and when he was weaned back onto enteral feeds
Thanks for the question. He continues the IV vitamin therapy but is also on oral feeds.
Very interesting thank you. Was the biochemistry suggestive of impaired fatty acid oxidation? i.e. abnormal acyl carnitine profile?
The choice of vitamin precursors is interesting, I wonder if you could point me to why these were chosen and not others?
Thank you.
Thank you for the question. The metabolic profile was normal, this included amino acid profile. The vitamin therapy was based on the the three pre-existing literature cases (see references) that had relative success on treatment with these vitamins. The SLC5A6 gene was known to code for the SMVT transporter and the vitamins given parenterally were those effected via the knock off of this transporter. I hope this answers your question!