title: 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.
authors: Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, University of Córdoba, Córdoba, Spain. med020053@saludalia.com
authors: Eduardo
authors: E
authors: López-Laso
authors: Rafael
authors: R
authors: Camino
authors: Maria Elena
authors: ME
authors: Mateos
authors: Juan Luis
authors: JL
authors: Pérez-Navero
authors: Juan José
authors: JJ
authors: Ochoa
authors: José Ignacio
authors: JI
authors: Lao-Villadóniga
authors: Aida
authors: A
authors: Ormazabal
authors: Rafael
authors: R
authors: Artuch
mesh_terms: D000978:Antiparkinson Agents / Q000009:adverse effects*; D005192:Family Health; D005260:Female; D006136:GTP Cyclohydrolase / Q000172:deficiency*; D006801:Humans; D018476:Hypokinesia / Q000139:chemically induced* / Q000503:physiopathology; D007223:Infant; D007980:Levodopa / Q000009:adverse effects*; D008297:Male; D009127:Muscle Rigidity; D012189:Retrospective Studies
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa; D006136:GTP Cyclohydrolase