Maple Syrup Urine Disease (MSUD) Medication

Updated: Feb 28, 2023
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Medication Summary

Some patients with maple syrup urine disease (MSUD) have been responsive to thiamine.



Class Summary

Vitamins are organic substances required by the body in small amounts for various metabolic processes. Vitamins may be synthesized in small or insufficient amounts in the body or not synthesized at all, thus requiring supplementation. Administer thiamine in cases of thiamine-responsiveness.

Thiamine (Thiamilate)

An essential coenzyme in carbohydrate and amino acid metabolism. Combines with ATP to form thiamine pyrophosphate. PO absorption is poor, but parenteral route may be associated with severe adverse reactions.