Long‐term follow‐up and adult outcome of 6‐pyruvoyl‐tetrahydropterin synthase deficiency
Identifieur interne : 002E22 ( Istex/Curation ); précédent : 002E21; suivant : 002E23Long‐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.
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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
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DOI: 10.1002/mds.20699
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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>choreoathetosis</term><term>malignant hyperphenylalaninemia</term><term>symptomatic dystonia</term><term>tetrahydrobiopterin deficiency</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></record>Pour manipuler ce document sous Unix (Dilib)
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