Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Jan;63(1):8-12.
doi: 10.1111/ped.14399. Epub 2021 Jan 10.

Guide for diagnosis and treatment of hyperphenylalaninemia

Haruo Shintaku  1 , Toshihiro Ohura  2 , Masaki Takayanagi  3 , Shigeo Kure  4 , Misao Owada  5 , Yoichi Matsubara  6 , Makoto Yoshino  7 , Yoshiyuki Okano  8 , Tetsuya Ito  9 , Torayuki Okuyama  10 , Kimitoshi Nakamura  11 , Masafumi Matuo  12 , Fumio Endo  13 , Hiroyuki Ida  14
Affiliations

Guide for diagnosis and treatment of hyperphenylalaninemia

Haruo Shintaku et al. Pediatr Int. 2021 Jan.

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.

Keywords: hyperphenylalaninemia; maternal phenylketonuria; phenylketonuria; tetrahydrobiopterin; tetrahydrobiopterin-responsive hyperphenylalaninemia.

PubMed Disclaimer

References

    1. Shintaku H. Disorders of tetrahydrobiopterin metabolism and their treatment. Curr. Drug Metab. 2002; 3: 123-31.
    1. Bickel H, Gerrard J, Hickmans EM. Influence of phenylalanine intake on phenylketonuria. Lancet 1953; 265: 812-3.
    1. National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement. Phenylketonuria: Screening and Management, October 16-18, 2000. Pediatrics 2001; 108: 972-982. 10.1542/peds.108.4.972.
    1. Camp KM, Paris MA, Acosta PB et al. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol. Genet. Metab. 2014; 112: 87-122.
    1. van Spronsen FJ, van Wegberg AM, Ahring K et al. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol. 2017; 5 (9): 743-56.

LinkOut - more resources