Document Detail

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.
MedLine Citation:
PMID:  16161143     Owner:  NLM     Status:  MEDLINE    
Little information is available on the long-term course and adult outcome of patients with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. We describe the course of a 32-year-old woman with hypotonia, dystonia, choreoathetosis, mental retardation, behavioral disturbances, and incomplete puberty due to PTPS deficiency. From the age of 6 months she developed progressive hypotonia and choreoathtetoid movements despite good control of hyperphenylalaninemia. Tetrahydrobiopterin deficiency was diagnosed at age 3 years. She had a dramatic response to L-dopa, which persisted at a stable dose for 29 years. Reducing the L-dopa dose led to severe axial hypotonia and limb dystonia, and increasing it led to florid abnormal movements and behavioral disorders. This report illustrates the role of dopamine modulation in motor, psychiatric, and endocrine functions.
Emmanuel Roze; Marie Vidailhet; Nenad Blau; Lisbeth Birk Moller; Diane Doummar; Thierry Billette de Villemeur; Anne Roubergue
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Movement disorders : official journal of the Movement Disorder Society     Volume:  21     ISSN:  0885-3185     ISO Abbreviation:  Mov. Disord.     Publication Date:  2006 Feb 
Date Detail:
Created Date:  2006-02-16     Completed Date:  2006-09-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  United States    
Other Details:
Languages:  eng     Pagination:  263-6     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2005 Movement Disorder Society.
Department of Neurology, Saint-Antoine Hospital, Paris, France, and Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.
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MeSH Terms
Antiparkinson Agents / therapeutic use
Athetosis / diagnosis*,  drug therapy,  enzymology
Child, Preschool
Chorea / diagnosis*,  drug therapy,  enzymology
Dose-Response Relationship, Drug
Dystonia / diagnosis*,  drug therapy,  enzymology
Follow-Up Studies
Infant, Newborn
Levodopa / therapeutic use
Long-Term Care
Muscle Hypotonia / diagnosis*,  drug therapy,  enzymology
Neurologic Examination
Phenylketonurias / diagnosis*,  drug therapy,  enzymology
Phosphorus-Oxygen Lyases / deficiency*
Pterins / metabolism*
Treatment Outcome
Reg. No./Substance:
0/Antiparkinson Agents; 0/Levodopa; 0/Pterins; 89687-39-8/dyspropterin; EC 4.6.-/Phosphorus-Oxygen Lyases; EC 4.6.10/6-pyruvoyltetrahydropterin synthase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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