Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Identifieur interne : 001438 ( Ncbi/Curation ); précédent : 001437; suivant : 001439Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Auteurs : Emmanuel Roze [Suisse] ; Marie Vidailhet ; Nenad Blau ; Lisbeth Birk Moller ; Diane Doummar ; Thierry Billette De Villemeur ; Anne RoubergueSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Adolescent, Adult, Antiparkinson Agents (therapeutic use), Athetosis (diagnosis), Athetosis (drug therapy), Athetosis (enzymology), Child, Child, Preschool, Chorea (diagnosis), Chorea (drug therapy), Chorea (enzymology), Dose-Response Relationship, Drug, Dystonia (diagnosis), Dystonia (drug therapy), Dystonia (enzymology), Female, Follow-Up Studies, Humans, Infant, Infant, Newborn, Levodopa (therapeutic use), Long-Term Care, Muscle Hypotonia (diagnosis), Muscle Hypotonia (drug therapy), Muscle Hypotonia (enzymology), Neurologic Examination, Phenylketonurias (diagnosis), Phenylketonurias (drug therapy), Phenylketonurias (enzymology), Phosphorus-Oxygen Lyases (deficiency), Pterins (metabolism), Treatment Outcome.
- MESH :
- chemical , deficiency : Phosphorus-Oxygen Lyases.
- chemical , metabolism : Pterins.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- diagnosis : Athetosis, Chorea, Dystonia, Muscle Hypotonia, Phenylketonurias.
- drug therapy : Athetosis, Chorea, Dystonia, Muscle Hypotonia, Phenylketonurias.
- enzymology : Athetosis, Chorea, Dystonia, Muscle Hypotonia, Phenylketonurias.
- Adolescent, Adult, Child, Child, Preschool, Dose-Response Relationship, Drug, Female, Follow-Up Studies, Humans, Infant, Infant, Newborn, Long-Term Care, Neurologic Examination, Treatment Outcome.
Abstract
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.
DOI: 10.1002/mds.20699
PubMed: 16161143
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Vidailhet</name></author><author><name sortKey="Blau, Nenad" sort="Blau, Nenad" uniqKey="Blau N" first="Nenad" last="Blau">Nenad Blau</name></author><author><name sortKey="Moller, Lisbeth Birk" sort="Moller, Lisbeth Birk" uniqKey="Moller L" first="Lisbeth Birk" last="Moller">Lisbeth Birk Moller</name></author><author><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name></author><author><name sortKey="De Villemeur, Thierry Billette" sort="De Villemeur, Thierry Billette" uniqKey="De Villemeur T" first="Thierry Billette" last="De Villemeur">Thierry Billette De Villemeur</name></author><author><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20699</idno><idno type="RBID">pubmed:16161143</idno><idno 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Biochemistry, University Children's Hospital, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></author><author><name sortKey="Blau, Nenad" sort="Blau, Nenad" uniqKey="Blau N" first="Nenad" last="Blau">Nenad Blau</name></author><author><name sortKey="Moller, Lisbeth Birk" sort="Moller, Lisbeth Birk" uniqKey="Moller L" first="Lisbeth Birk" last="Moller">Lisbeth Birk Moller</name></author><author><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name></author><author><name sortKey="De Villemeur, Thierry Billette" sort="De Villemeur, Thierry Billette" uniqKey="De Villemeur T" first="Thierry Billette" last="De Villemeur">Thierry Billette De Villemeur</name></author><author><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Antiparkinson Agents (therapeutic use)</term><term>Athetosis (diagnosis)</term><term>Athetosis (drug therapy)</term><term>Athetosis (enzymology)</term><term>Child</term><term>Child, Preschool</term><term>Chorea (diagnosis)</term><term>Chorea (drug therapy)</term><term>Chorea (enzymology)</term><term>Dose-Response Relationship, Drug</term><term>Dystonia (diagnosis)</term><term>Dystonia (drug therapy)</term><term>Dystonia (enzymology)</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Levodopa (therapeutic use)</term><term>Long-Term Care</term><term>Muscle Hypotonia (diagnosis)</term><term>Muscle Hypotonia (drug therapy)</term><term>Muscle Hypotonia (enzymology)</term><term>Neurologic Examination</term><term>Phenylketonurias (diagnosis)</term><term>Phenylketonurias (drug therapy)</term><term>Phenylketonurias (enzymology)</term><term>Phosphorus-Oxygen Lyases (deficiency)</term><term>Pterins (metabolism)</term><term>Treatment Outcome</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Phosphorus-Oxygen Lyases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Pterins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="diagnosis" 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xml:lang="en">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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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