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NEUROLOGY 2006;67:2032-2035
© 2006 American Academy of Neurology
Brief Communications

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency

Jennifer Friedman, MD, Keith Hyland, PhD, Nenad Blau, PhD and Mia MacCollin, MD

From the Department of Neurology (J.F., M.M.), Massachusetts General Hospital, Boston; Department of Neurology (J.F.), Rady Children’s Hospital–San Diego, CA; Horizon Molecular Medicine (K.H.), Atlanta, GA; and Division of Clinical Chemistry and Biochemistry (N.B.), University Children’s Hospital, Zurich, Switzerland.

Address correspondence and reprint requests to Dr. J. Friedman, Department of Neurology, Rady Children’s Hospital–San Diego, 8010 Frost St., San Diego, CA 92123; e-mail: jrfriedman{at}chsd.org

Sepiapterin reductase deficiency (SRD) is a rare, treatable disorder of monoamine metabolism with cognitive delay and l-dopa responsive movement disorder. We describe a patient with SRD and distinctive phenotypic feature of marked hypersomnolence. Our patient showed improvement with therapies directed at both serotonergic and dopaminergic deficiencies. This case illustrates symptoms that characterize the SRD phenotype and demonstrates the importance of systematic treatment trials addressing the various biochemical abnormalities present.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the December 12 issue to find the title link for this article.

Supported in part by the Swiss National Science Foundation grant no. 310000-107500/1 (to N.B.).

Disclosure: The authors report no conflicts of interest.

Received May 15, 2006. Accepted in final form September 13, 2006.


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