Long‐term follow‐up and adult outcome of 6‐pyruvoyl‐tetrahydropterin synthase deficiency
Identifieur interne : 000360 ( France/Analysis ); précédent : 000359; suivant : 000361Long‐term follow‐up and adult outcome of 6‐pyruvoyl‐tetrahydropterin synthase deficiency
Auteurs : Emmanuel Roze [France] ; Marie Vidailhet [France] ; Nenad Blau [Suisse] ; Lisbeth Birk Moller [Danemark] ; Diane Doummar [France] ; Thierry Billette De Villemeur [France] ; Anne Roubergue [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-02.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Déficit.
English descriptors
- KwdEn :
- 6‐pyruvoyl‐tetrahydropterin synthase deficiency, Adolescent, Adult, Antiparkinson Agents (therapeutic use), Athetosis (diagnosis), Athetosis (drug therapy), Athetosis (enzymology), Child, Child, Preschool, Chorea (diagnosis), Chorea (drug therapy), Chorea (enzymology), Choreoathetosis, Deficiency, Dose-Response Relationship, Drug, Dystonia, Dystonia (diagnosis), Dystonia (drug therapy), Dystonia (enzymology), Female, Follow-Up Studies, Humans, Hyperphenylalaninemia, Infant, Infant, Newborn, Levodopa (therapeutic use), Long term, Long-Term Care, Malignant tumor, Muscle Hypotonia (diagnosis), Muscle Hypotonia (drug therapy), Muscle Hypotonia (enzymology), Nervous system diseases, Neurologic Examination, Phenylketonurias (diagnosis), Phenylketonurias (drug therapy), Phenylketonurias (enzymology), Phosphorus-Oxygen Lyases (deficiency), Prognosis, Pterins (metabolism), Synthase, Tetrahydrobiopterin, Treatment Outcome, choreoathetosis, malignant hyperphenylalaninemia, symptomatic dystonia, tetrahydrobiopterin deficiency.
- 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. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20699
Affiliations:
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Kennedy Institute, Glostrup</wicri:regionArea><wicri:noRegion>Glostrup</wicri:noRegion></affiliation></author><author><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Child Neurology, Trousseau Hospital, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></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><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Child Neurology, Trousseau Hospital, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, Saint‐Antoine Hospital, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Child Neurology, Trousseau Hospital, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-02">2006-02</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="263">263</biblScope><biblScope unit="page" to="266">266</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">2F9CA49A6322041E8B069A01BC3E1881F610E6E6</idno><idno type="DOI">10.1002/mds.20699</idno><idno type="ArticleID">MDS20699</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>6‐pyruvoyl‐tetrahydropterin synthase deficiency</term><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>Choreoathetosis</term><term>Deficiency</term><term>Dose-Response Relationship, Drug</term><term>Dystonia</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>Hyperphenylalaninemia</term><term>Infant</term><term>Infant, Newborn</term><term>Levodopa (therapeutic use)</term><term>Long term</term><term>Long-Term Care</term><term>Malignant tumor</term><term>Muscle Hypotonia (diagnosis)</term><term>Muscle Hypotonia (drug therapy)</term><term>Muscle Hypotonia (enzymology)</term><term>Nervous system diseases</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>Prognosis</term><term>Pterins (metabolism)</term><term>Synthase</term><term>Tetrahydrobiopterin</term><term>Treatment Outcome</term><term>choreoathetosis</term><term>malignant hyperphenylalaninemia</term><term>symptomatic dystonia</term><term>tetrahydrobiopterin deficiency</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" xml:lang="en"><term>Athetosis</term><term>Chorea</term><term>Dystonia</term><term>Muscle Hypotonia</term><term>Phenylketonurias</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Athetosis</term><term>Chorea</term><term>Dystonia</term><term>Muscle Hypotonia</term><term>Phenylketonurias</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Athetosis</term><term>Chorea</term><term>Dystonia</term><term>Muscle Hypotonia</term><term>Phenylketonurias</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Dose-Response Relationship, Drug</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Long-Term Care</term><term>Neurologic Examination</term><term>Treatment Outcome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Bioptérine(tétrahydro)</term><term>Choréoathétose</term><term>Dystonie</term><term>Déficit</term><term>Hyperphénylalaninémie</term><term>Long terme</term><term>Pronostic</term><term>Synthase</term><term>Système nerveux pathologie</term><term>Tumeur maligne</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Déficit</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" 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. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Danemark</li><li>France</li><li>Suisse</li></country><settlement><li>Paris</li></settlement></list><tree><country name="France"><noRegion><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name></noRegion><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><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></country><country name="Suisse"><noRegion><name sortKey="Blau, Nenad" sort="Blau, Nenad" uniqKey="Blau N" first="Nenad" last="Blau">Nenad Blau</name></noRegion></country><country name="Danemark"><noRegion><name sortKey="Moller, Lisbeth Birk" sort="Moller, Lisbeth Birk" uniqKey="Moller L" first="Lisbeth Birk" last="Moller">Lisbeth Birk Moller</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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