title: Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia.
abstract: 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.
authors.affiliation: Fédération des maladies du système nerveux, Groupe Hospitalier Pitié-Salpêtrière, 47 Boulevard de l'Hôpital, 75651 Paris cedex 13, France. frederic.sedel@psl.ap-hop-paris.fr
authors.forename: F
authors.initials: F
authors.lastname: Sedel
authors.forename: M J
authors.initials: MJ
authors.lastname: Ribeiro
authors.forename: P
authors.initials: P
authors.lastname: Remy
authors.forename: N
authors.initials: N
authors.lastname: Blau
authors.forename: J-M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: Y
authors.initials: Y
authors.lastname: Agid
mesh_terms: D006916:5-Hydroxytryptophan / Q000627:therapeutic use*; D000328:Adult; D018687:Antidepressive Agents, Second-Generation / Q000627:therapeutic use; D015259:Dopamine Agents / Q000627:therapeutic use; D004338:Drug Combinations; D004409:Dyskinesia, Drug-Induced / Q000209:etiology*; D020820:Dyskinesias; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008137:Longitudinal Studies; D008297:Male; D010661:Phenylketonurias / Q000175:diagnosis* / Q000188:drug therapy*; D016896:Treatment Outcome
chemical_list: D018687:Antidepressive Agents, Second-Generation; D015259:Dopamine Agents; D004338:Drug Combinations; D007980:Levodopa; D006916:5-Hydroxytryptophan