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NEUROLOGY 2006;67:2243-2245
© 2006 American Academy of Neurology
Brief Communications

Dihydropteridine reductase deficiency: Levodopa’s long-term effectiveness without dyskinesia

F. Sedel, MD, PhD, M. J. Ribeiro, MD, PhD, P. Remy, MD, PhD, N. Blau, PhD, J. -M. Saudubray, MD and Y. Agid, MD, PhD

From the Fédération des maladies du système nerveux (F.S., Y.A.) and INSERM U679 (Y.A.), CHU Pitié–Salpêtrière, Paris, Service Hospitalier Frédéric Joliot (M.J.R.), DRM, DSV, CEA, Orsay, CNRS–CEA 2210 (P.R.), Service Hospitalier Frédéric Joliot, Orsay, Département de Neurosciences (P.R.), CHU Henri Mondor, AP-HP et Faculté de Médecine Paris 12, Créteil, and Service de neuropédiatrie et maladies métaboliques (J.-M.S.), Centre hospitalier universitaire Necker–enfants malades, Paris, France; and Divisions of Clinical Chemistry and Biochemistry (N.B.), University Children’s Hospital, Zurich, Switzerland.

Address correspondence and reprint requests to Dr. F. Sedel, Fédération des maladies du système nerveux, Groupe Hospitalier Pitié–Salpêtrière, 47 Boulevard de l’Hôpital, 75651 Paris cedex 13, France; e-mail: frederic.sedel{at}psl.ap-hop-paris.fr

We report an adult patient lacking endogenous synthesis of monoamines (dopamine, serotonin, and catecholamines) due to a severe dihydropteridine reductase (DHPR) deficiency. With levodopa and 5-hydroxytryptophan (5HTP) supplementation, the patient exhibited moderate mental retardation, acute episodes of parkinsonism, and episodes of depression. Despite the use of levodopa from age 3 months, he exhibited no dyskinesia or dopaminergic cell loss as suggested by normal PET imaging of the dopamine transporter.

Disclosure: The authors report no conflicts of interest.

Received May 1, 2006. Accepted in final form September 13, 2006.




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