title: Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K).
abstract: We report a novel missense mutation in the GCH-1 gene resulting in Segawa disease. The patient, a 6-year-old girl, presented with dystonia. Her CSF biopterin and neopterin levels were reduced, suggesting Segawa disease. L-dopa administration led to clinical improvement. Genetic analysis revealed a missense mutation in exon 5 of the GCH-1 gene (E183K). Although dystonia or other movement disorders were not identified in her family, this may be explained by the low penetrance of Segawa disease.
authors.affiliation: Division of Pediatrics, Department of Reproductive and Developmental Medicine, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake-Chou, Miyazaki-Gun, Miyazaki 889-1692, Japan. tikeda@fc.miyazaki-u.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Ikeda
authors.forename: K
authors.initials: K
authors.lastname: Kanmura
authors.forename: Y
authors.initials: Y
authors.lastname: Kodama
authors.forename: K
authors.initials: K
authors.lastname: Sawada
authors.forename: H
authors.initials: H
authors.lastname: Nunoi
authors.forename: K
authors.initials: K
authors.lastname: Hasegawa
mesh_terms: D001483:Base Sequence; D001708:Biopterins / Q000134:cerebrospinal fluid / Q000378:metabolism; D002648:Child; D004421:Dystonia / Q000188:drug therapy / Q000235:genetics*; D020821:Dystonic Disorders / Q000188:drug therapy / Q000235:genetics*; D005091:Exons; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D020125:Mutation, Missense; D019798:Neopterin / Q000134:cerebrospinal fluid / Q000378:metabolism; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D001708:Biopterins; D007980:Levodopa; D019798:Neopterin; D006136:GTP Cyclohydrolase