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Thiamine

Thiamine responsive MSUD, Thiamine responsive pyruvate dehydrogenase deficiency and complex I deficiency.

Various dosage have been used: 100mg/day, (170)10mg/kg/day2, the dose ranges between10-1000mg/day (4, 8, 171, 172).

50 mg, 100 mg, 250 mg, 500 mg tablet

100 mg/mL injection

PO/IV

Injection site reaction.

4

4. Winter SC. Treatment of carnitine deficiency. J Inherit Metab Dis 2003;26(2-3):171-80

8. Centre for Evidence-Based Medicine. Secondary Centre for Evidence-Based Medicine  2009. http://www.cebm.net/index.aspx?o=1025.

170. Schuler A, Kalmanchey R, Barsi P, et al. Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies. J Inherit Metab Dis 2000;23(4):329-32

171. Adrogue HJ, Madias NE. Management of life-threatening acid-base disorders. Second of two parts. N Engl J Med 1998;338(2):107-11 doi: 10.1056/NEJM199801083380207[published Online First: Epub Date]|.

172. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report. Pediatrics 2011;128 Suppl 5:S213-56 doi: 10.1542/peds.2009-2107C[published Online First: Epub Date]|.

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