Guide for diagnosis and treatment of hyperphenylalaninemia. Issue 1 (10th January 2021)
- Record Type:
- Journal Article
- Title:
- Guide for diagnosis and treatment of hyperphenylalaninemia. Issue 1 (10th January 2021)
- Main Title:
- Guide for diagnosis and treatment of hyperphenylalaninemia
- Authors:
- Shintaku, Haruo
Ohura, Toshihiro
Takayanagi, Masaki
Kure, Shigeo
Owada, Misao
Matsubara, Yoichi
Yoshino, Makoto
Okano, Yoshiyuki
Ito, Tetsuya
Okuyama, Torayuki
Nakamura, Kimitoshi
Matuo, Masafumi
Endo, Fumio
Ida, Hiroyuki - Abstract:
- Abstract: Importance: Sapropterin hydrochloride, a natural coenzyme (6R‐tetrahydrobiopterin) of phenylalanine hydroxylase, was first approved as a treatment for tetrahydrobiopterin deficiency in 1992 in Japan, and was then approved as a treatment for a tetrahydrobiopterin‐responsive hyperphenylalaninemia in 2007 and 2008, in the USA and Japan, respectively. Guidelines are required on the proper use of sapropterin hydrochloride for tetrahydrobiopterin‐responsive hyperphenylalaninemia. Observations: It is recommended that tetrahydrobiopterin‐responsive hyperphenylalaninemia should be diagnosed in all cases of hyperphenylalaninemia, including phenylketonuria, by tetrahydrobiopterin administration tests rather than by phenotype or blood phenylalanine levels. Conclusions and Relevance: If tetrahydrobiopterin‐responsive hyperphenylalaninemia is diagnosed, all ages can be treated with sapropterin hydrochloride. Although there are reports that sapropterin hydrochloride is effective and safe for the prevention of maternal phenylketonuria, further investigation is required.
- Is Part Of:
- Pediatrics international. Volume 63:Issue 1(2021)
- Journal:
- Pediatrics international
- Issue:
- Volume 63:Issue 1(2021)
- Issue Display:
- Volume 63, Issue 1 (2021)
- Year:
- 2021
- Volume:
- 63
- Issue:
- 1
- Issue Sort Value:
- 2021-0063-0001-0000
- Page Start:
- 8
- Page End:
- 12
- Publication Date:
- 2021-01-10
- Subjects:
- hyperphenylalaninemia -- maternal phenylketonuria -- phenylketonuria -- tetrahydrobiopterin -- tetrahydrobiopterin‐responsive hyperphenylalaninemia
Pediatrics -- Periodicals
618.92 - Journal URLs:
- http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1442-200X/issues. Subscription to online journal required for access to full text. ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1111/ped.14399 ↗
- Languages:
- English
- ISSNs:
- 1328-8067
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 6417.655800
British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 15562.xml