title: Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.
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.
authors.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
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Roze
authors.forename: Marie
authors.initials: M
authors.lastname: Vidailhet
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
authors.forename: Lisbeth Birk
authors.initials: LB
authors.lastname: Moller
authors.forename: Diane
authors.initials: D
authors.lastname: Doummar
authors.forename: Thierry Billette
authors.initials: TB
authors.lastname: de Villemeur
authors.forename: Anne
authors.initials: A
authors.lastname: Roubergue
mesh_terms: D000293:Adolescent; D000328:Adult; D000978:Antiparkinson Agents / Q000627:therapeutic use; D001264:Athetosis / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology; D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology; D004305:Dose-Response Relationship, Drug; D004421:Dystonia / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007980:Levodopa / Q000627:therapeutic use; D008134:Long-Term Care; D009123:Muscle Hypotonia / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology; D009460:Neurologic Examination; D010661:Phenylketonurias / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology; D019761:Phosphorus-Oxygen Lyases / Q000172:deficiency*; D011622:Pterins / Q000378:metabolism*; D016896:Treatment Outcome
chemical_list: D000978:Antiparkinson Agents; D011622:Pterins; D007980:Levodopa; C045652:dyspropterin; D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase