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Sapropterin dihydrochloride (Kuvan®)
Hyperphenylalaninemia (HPA) due to BH4 responsive Phenylketonuria (PKU).
BH4 loading test: 20 mg/kg/dose once daily for 2 consecutive days.
Others: 10 - 20 mg/kg/day once daily (160-162), monitor phenylalanine levels and adjust the dose accordingly.
100 mg tablet
Oral
Abdominal pain, diarrhea, nausea, vomiting, headache, nasal discharge, throat pain, URTI.
1b
160. Brandt NJ, Gregersen N, Christensen E, Gron IH, Rasmussen K. Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue. J Pediatr 1979;94(4):669-73
161. Chalmers RA, Bain MD, Zschocke J. Riboflavin-responsive glutaryl CoA dehydrogenase deficiency. Mol Genet Metab 2006;88(1):29-37 doi: 10.1016/j.ymgme.2005.11.007[published Online First: Epub Date]|.
162. Izumi R, Suzuki N, Nagata M, et al. A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure. Intern Med 2011;50(21):2663-8
