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
Case Reports
. 2004 May;19(5):590-3.
doi: 10.1002/mds.10712.

Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report

Akio Kikuchi  1 , Atsushi Takeda, Kazuo Fujihara, Teiko Kimpara, Yusei Shiga, Hiroaki Tanji, Makiko Nagai, Hiroshi Ichinose, Fumi Urano, Nobuyuki Okamura, Hiroyuki Arai, Yasuto Itoyama
Affiliations
Case Reports

Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report

Akio Kikuchi et al. Mov Disord. 2004 May.

Abstract

We describe a 54-year-old man with dominant adult-onset dopa-responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5'-triphosphate cyclohydrolase I (GCH-I). This is the first mutation in the GCH-I gene that has been proven to be responsible for both recessive and dominant phenotypes.

PubMed Disclaimer

Publication types

MeSH terms

LinkOut - more resources