title: Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
abstract: Dopa-responsive dystonia in children, including guanosine triphosphate cyclohydrolase I deficiency, is an important subcategory of treatable dystonia characterized by a dramatic, sustained response to levodopa. Early diagnosis is difficult, however, because of the heterogeneity of the clinical phenotype. We report on two Korean children affected with dopa-responsive dystonia caused by a novel missense mutation of the guanosine triphosphate cyclohydrolase I gene. One child exhibits a novel sporadic mutation, and the other child demonstrates autosomal-dominant inheritance.
authors.affiliation: Department of Pediatrics, Asan Medical Center, College of Medicine, University of Ulsan, Seoul, Republic of Korea.
authors.forename: Mi-Sun
authors.initials: MS
authors.lastname: Yum
authors.forename: Tae-Sung
authors.initials: TS
authors.lastname: Ko
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
authors.forename: Sun-Ju
authors.initials: SJ
authors.lastname: Chung
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D006136:GTP Cyclohydrolase / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D007723:Korea; D008297:Male; D009154:Mutation; D013912:Threonine / Q000235:genetics
chemical_list: D007532:Isoleucine; D013912:Threonine; D006136:GTP Cyclohydrolase