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Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency.

Abstract
We report on a GTP cyclohydrolase 1 mutation-confirmed heterozygous case presenting with an infantile hypokinetic rigid syndrome and delay in attainment of motor milestones starting from the first year of life. He had a family history of dopa-responsive dystonia-parkinsonism. CSF neopterin, biopterin and HVA values were decreased. Molecular study of GCH-1 gene showed the Q89X mutation in exon 1. Treatment with l-dopa resulted in a complete remission of symptoms.
AuthorsEduardo López-Laso, Rafael Camino, Maria Elena Mateos, Juan Luis Pérez-Navero, Juan José Ochoa, José Ignacio Lao-Villadóniga, Aida Ormazabal, Rafael Artuch
JournalJournal of the neurological sciences (J Neurol Sci) Vol. 256 Issue 1-2 Pg. 90-3 (May 15 2007) ISSN: 0022-510X [Print] Netherlands
PMID17368676 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Antiparkinson Agents
  • Levodopa
  • GTP Cyclohydrolase
Topics
  • Antiparkinson Agents (adverse effects)
  • Family Health
  • Female
  • GTP Cyclohydrolase (deficiency)
  • Humans
  • Hypokinesia (chemically induced, physiopathology)
  • Infant
  • Levodopa (adverse effects)
  • Male
  • Muscle Rigidity
  • Retrospective Studies

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