Sepiapterin

l-Sepiapterin

Names
IUPAC name 2-amino-6-[(2S)-2-hydroxypropanoyl]-7,8-dihydro-1H-pteridin-4-one
Other names Sephience
Identifiers
CAS Number	17094-01-8
3D model (JSmol)	Interactive image
ChEMBL	ChEMBL1255653
ChemSpider	58746
KEGG	C00835
PubChem CID	65253
UNII	CJQ26KO7HP
InChI InChI=1S/C9H11N5O3/c1-3(15)6(16)4-2-11-7-5(12-4)8(17)14-9(10)13-7/h3,15H,2H2,1H3,(H4,10,11,13,14,17)/t3-/m0/s1 Key: VPVOXUSPXFPWBN-VKHMYHEASA-N InChI=1/C9H11N5O3/c1-3(15)6(16)4-2-11-7-5(12-4)8(17)14-9(10)13-7/h3,15H,2H2,1H3,(H4,10,11,13,14,17)/t3-/m0/s1 Key: VPVOXUSPXFPWBN-VKHMYHEABT
SMILES O=C1\N=C(/NC=2NCC(=N/C1=2)\C(=O)[C@@H](O)C)N
Properties
Chemical formula	C9H11N5O3
Molar mass	237.22 g/mol
Pharmacology
ATC code	None
Routes of administration	By mouth
Legal status	US: ℞-only [1] EU:Rx-only [2] [3]
Except where otherwise noted, data are given for materials in their standard state (at 25 °C [77 °F], 100 kPa). N  verify  (what is  YN ?) Infobox references

Sepiapterin, sold under the brand name Sephience, is a medication used for the treatment of hyperphenylalaninemia. ^{[2] [3]} Sepiapterin is a phenylalanine hydroxylase activator. ^[1]

The most common side effects are upper respiratory tract infection, headache, diarrhea, abdominal pain, hyperphenylalaninemia and discoloration of feces. ^[2]

Medical uses

Sepiapterin is indicated for the treatment of hyperphenylalaninemia in people with phenylketonuria. ^{[1] [2]}

Side effects

The most common side effects are upper respiratory tract infection, headache, diarrhea, abdominal pain, hyperphenylalaninemia and discoloration of feces. ^[2]

Society and culture

Legal status

In April 2025, the Committee for Medicinal Products for Human Use of the European Medicines Agency adopted a positive opinion, recommending the granting of a marketing authorization for the medicinal product Sephience, intended for the treatment of hyperphenylalaninemia in adults and children with phenylketonuria. ^[2] The applicant for this medicinal product is PTC Therapeutics International Limited. ^[2] Sepiapterin was authorized for medical use in the European Union in June 2025. ^{[2] [3]}

Sepiapterin was approved for medical use in the United States in July 2025. ^[1]

Research

Deficiency of tetrahydrobiopterin can cause toxic buildup of phenylalanine (phenylketonuria) as well as deficiencies of dopamine, norepinephrine, and epinephrine, leading to dystonia and other neurological illnesses. This has led to clinical study of sepiapterin in humans to treat tetrahydrobiopterin deficiency. ^[4]

Since atherosclerosis and other circulatory diseases associated with diabetes are also associated with tetrahydrobiopterin deficiency, animal studies of the value of sepiaterin in these vascular diseases have been done. These studies show that relaxation of the blood vessels studied was impaired after animals were given sepiapterin, even though their levels of tetrahydrobiopterin were replenished. ^[5]

References

1. "Highlights of prescribing information - Sephience (sepiapterin) oral powder" (PDF). www.accessdata.fda.gov.
2. "Sephience EPAR". European Medicines Agency (EMA). 25 April 2025. Retrieved 2 May 2025. Text was copied from this source which is copyright European Medicines Agency. Reproduction is authorized provided the source is acknowledged.
3. "Sephience Product information". Union Register of medicinal products. 25 June 2025. Retrieved 27 June 2025.
4. Smith N, Longo N, Levert K, Hyland K, Blau N (April 2019). "Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers". Molecular Genetics and Metabolism. 126 (4): 406–412. doi:10.1016/j.ymgme.2019.02.001. ISSN   1096-7192. PMID   30922814. S2CID   85564348.
5. Vasquez-Vivar J, Duquiane D, Whitsett J, Kalyanaraman B, Rajagopalan S (October 2002). "Altered Tetrahydrobiopterin Metabolism in Atherosclerosis". Arteriosclerosis, Thrombosis, and Vascular Biology. 22 (10): 1655–1661. doi: 10.1161/01.ATV.0000029122.79665.D9 . PMID   12377745.