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 episode...
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| Veröffentlicht in: | Neurology 2006-12, Vol.67 (12), p.2243-2245 |
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| container_title | Neurology |
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| creator | SEDEL, F RIBEIRO, M. J REMY, P BLAU, N SAUDUBRAY, J.-M AGID, Y |
| description | 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. |
| doi_str_mv | 10.1212/01.wnl.0000249335.35585.3e |
| format | Article |
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| ispartof | Neurology, 2006-12, Vol.67 (12), p.2243-2245 |
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| language | eng |
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| source | MEDLINE; Journals@Ovid Complete; Alma/SFX Local Collection |
| subjects | 5-Hydroxytryptophan - therapeutic use Adult Antidepressive Agents, Second-Generation - therapeutic use Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Dopamine Agents - therapeutic use Drug Combinations Drug toxicity and drugs side effects treatment Dyskinesia, Drug-Induced - etiology Dyskinesias Humans Levodopa - therapeutic use Longitudinal Studies Male Medical sciences Neurology Pharmacology. Drug treatments Phenylketonurias - diagnosis Phenylketonurias - drug therapy Toxicity: nervous system and muscle Treatment Outcome |
| title | Dihydropteridine reductase deficiency : Levodopa's long-term effectiveness without dyskinesia |
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