MovDisordV3, PubMed, Corpus, bibRecord, 002E74

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Identifieur interne : 002E74 ( PubMed/Corpus ); précédent : 002E73; suivant : 002E75

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Auteurs : Emmanuel Roze ; Marie Vidailhet ; Nenad Blau ; Lisbeth Birk Moller ; Diane Doummar ; Thierry Billette De Villemeur ; Anne Roubergue

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.

RBID : pubmed:16161143

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

Links to Exploration step

pubmed:16161143

Le document en format XML

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<author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<affiliation><nlm:affiliation>Department of Neurology, Saint-Antoine Hospital, Paris, France, and Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland. emmanuel.roze@sat.aphp.fr</nlm:affiliation>
</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>
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<author><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.</title>
<author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<affiliation><nlm:affiliation>Department of Neurology, Saint-Antoine Hospital, Paris, France, and Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland. emmanuel.roze@sat.aphp.fr</nlm:affiliation>
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<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
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<author><name sortKey="Blau, Nenad" sort="Blau, Nenad" uniqKey="Blau N" first="Nenad" last="Blau">Nenad Blau</name>
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<author><name sortKey="Moller, Lisbeth Birk" sort="Moller, Lisbeth Birk" uniqKey="Moller L" first="Lisbeth Birk" last="Moller">Lisbeth Birk Moller</name>
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<author><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name>
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<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>
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<author><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name>
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<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" xml:lang="en"><term>Athetosis</term>
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<term>Dystonia</term>
<term>Muscle Hypotonia</term>
<term>Phenylketonurias</term>
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<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>
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<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>
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<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.</div>
</front>
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<Month>02</Month>
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<DateRevised><Year>2013</Year>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>Copyright (c) 2005 Movement Disorder Society.</CopyrightInformation>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki