BSPGHAN 2021 Virtual Annual Meeting

27- 29 April 2021

SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER DEFECTS – A RARE CAUSE OF CYCLICAL VOMITING AND FALTERING GROWTH

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Jutta Koeglmeier
Jutta Koeglmeier
19 days ago

an interesting case. Could you comment of there was any improvement on parenteral support and when he was weaned back onto enteral feeds

Kushila Rupasinghe
Kushila Rupasinghe
19 days ago

Thanks for the question. He continues the IV vitamin therapy but is also on oral feeds.

David Campbell
David Campbell
18 days 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.

Kushila Rupasinghe
Kushila Rupasinghe
18 days ago
Reply to  David Campbell

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!