| Description |
Sapropterin is a naturally occurring essential cofactor of the three aromatic amino acid hydroxylase enzymes, used in the degradation of amino acid phenylalanine and in the biosynthesis of dopamine, epinephrine, melatonin, norepinephrine, neurotransmitters 5-HT, it is also a cofactor for the production of nitric oxide (NO) by the nitric oxide synthases. |
| References |
1. Doyle S, O'Regan M, Stenson C, Bracken J, Hendroff U, Agasarova A, Deverell D, Treacy EP. Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria. JIMD Rep. 2017 Oct 14. doi: 10.1007/8904_2017_63. [Epub ahead of print] PubMed PMID: 29030855. 2. Kör D, Yılmaz BŞ, Bulut FD, Ceylaner S, Mungan NÖ. Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose. J Pediatr Endocrinol Metab. 2017 Jul 26;30(7):713-718. doi: 10.1515/jpem-2016-0461. PubMed PMID: 28593914. 3. Muntau AC, Burlina A, Eyskens F, Freisinger P, De Laet C, Leuzzi V, Rutsch F, Sivri HS, Vijay S, Bal MO, Gramer G, Pazdírková R, Cleary M, Lotz-Havla AS, Munafo A, Mould DR, Moreau-Stucker F, Rogoff D. Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial. Orphanet J Rare Dis. 2017 Mar 9;12(1):47. doi: 10.1186/s13023-017-0600-x. PubMed PMID: 28274234; PubMed Central PMCID: PMC5343543. 4. Hawks Z, Shimony J, Rutlin J, Grange DK, Christ SE, White DA. Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria. Mol Genet Metab Rep. 2017 Feb 23;12:8-13. doi: 10.1016/j.ymgmr.2017.01.013. eCollection 2017 Sep. PubMed PMID: 28271047; PubMed Central PMCID: PMC5323508. |
