title: Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency.
abstract: OBJECTIVE
  To report the first prenatal dopaminergic replacement therapy in autosomal recessive (AR) guanosine triphosphate cyclohydrolase 1 (GTPCH) deficiency without hyperphenylalaninemia.
  
  
  METHODS
  Case reports, literature review, and video presentation.
  
  
  METHODS
  University of Lübeck, Lübeck, Germany.
  
  
  METHODS
  Two boys from a consanguineous family.
  
  
  METHODS
  Physical and mental development as a function of replacement initiation.
  
  
  RESULTS
  The older sibling presented with typical features of AR GTPCH deficiency due to a homozygous mutation in the GCH1 gene with proven pathogenicity. Levodopa treatment was initiated at age 10 months and resulted in a distinct motor improvement. However, mental development was delayed. In the younger sibling, prenatal replacement therapy was initiated after a prenatal diagnosis of AR GTPCH deficiency was made. At age 17 months, both motor and mental development were normal for his age.
  
  
  CONCLUSIONS
  This report highlights the importance of an early diagnosis, including prenatal diagnosis, of complex dopa-responsive extrapyramidal syndromes. Prenatally initiated dopaminergic replacement therapy is beneficial and thus justified in AR GTPCH deficiency, allowing prevention of significant impairment of mental abilities.
authors.affiliation: Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck, Germany.
authors.forename: Norbert
authors.initials: N
authors.lastname: Brüggemann
authors.forename: Juliane
authors.initials: J
authors.lastname: Spiegler
authors.forename: Yorck
authors.initials: Y
authors.lastname: Hellenbroich
authors.forename: Thomas
authors.initials: T
authors.lastname: Opladen
authors.forename: Susanne A
authors.initials: SA
authors.lastname: Schneider
authors.forename: Ulrich
authors.initials: U
authors.lastname: Stephani
authors.forename: Rainer
authors.initials: R
authors.lastname: Boor
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: Jürgen
authors.initials: J
authors.lastname: Sperner
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
mesh_terms: D005260:Female; D006136:GTP Cyclohydrolase / Q000172:deficiency* / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007980:Levodopa / Q000008:administration & dosage*; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011295:Prenatal Care / Q000379:methods*; D011296:Prenatal Diagnosis / Q000379:methods
chemical_list: D007980:Levodopa; D006136:GTP Cyclohydrolase