Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia.
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.
Sedel
F
F
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
Ribeiro
M J
MJ
Remy
P
P
Blau
N
N
Saudubray
J-M
JM
Agid
Y
Y
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
D018687:Antidepressive Agents, Second-Generation; D015259:Dopamine Agents; D004338:Drug Combinations; D007980:Levodopa; D006916:5-Hydroxytryptophan