Tags

Type your tag names separated by a space and hit enter

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Mov Disord. 2006 Feb; 21(2):263-6.MD

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+Show Affiliations

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.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16161143

Citation

Roze, Emmanuel, et al. "Long-term Follow-up and Adult Outcome of 6-pyruvoyl-tetrahydropterin Synthase Deficiency." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 21, no. 2, 2006, pp. 263-6.
Roze E, Vidailhet M, Blau N, et al. Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency. Mov Disord. 2006;21(2):263-6.
Roze, E., Vidailhet, M., Blau, N., Moller, L. B., Doummar, D., de Villemeur, T. B., & Roubergue, A. (2006). Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency. Movement Disorders : Official Journal of the Movement Disorder Society, 21(2), 263-6.
Roze E, et al. Long-term Follow-up and Adult Outcome of 6-pyruvoyl-tetrahydropterin Synthase Deficiency. Mov Disord. 2006;21(2):263-6. PubMed PMID: 16161143.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency. AU - Roze,Emmanuel, AU - Vidailhet,Marie, AU - Blau,Nenad, AU - Moller,Lisbeth Birk, AU - Doummar,Diane, AU - de Villemeur,Thierry Billette, AU - Roubergue,Anne, PY - 2005/9/15/pubmed PY - 2006/9/26/medline PY - 2005/9/15/entrez SP - 263 EP - 6 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 21 IS - 2 N2 - 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. SN - 0885-3185 UR - https://wwww.unboundmedicine.com/medline/citation/16161143/Long_term_follow_up_and_adult_outcome_of_6_pyruvoyl_tetrahydropterin_synthase_deficiency_ L2 - https://doi.org/10.1002/mds.20699 DB - PRIME DP - Unbound Medicine ER -