title: Guanine triphosphate-cyclohydrolase 1-deficient dopa-responsive dystonia presenting as frequent falling in 2 children.
abstract: Guanine triphosphate (GTP)-cyclohydrolase 1 (GCH1)-deficient dopa-responsive dystonia is caused by GCH1 gene mutation. Two children presenting with frequent daily falling are reported with GCH1 gene mutations with persistent response to low-dose levodopa/carbidopa. Typical and atypical clinical features associated with GCH1 mutations are also reviewed.
authors: Department of Pediatrics and Neurology, The Ohio State University, Columbus, OH 43205, USA. changyong.tsao@nationwidechildrens.org
authors: Chang-Yong
authors: CY
authors: Tsao
mesh_terms: D000058:Accidental Falls; D002648:Child; D002675:Child, Preschool; D020821:Dystonic Disorders / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006136:GTP Cyclohydrolase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D006136:GTP Cyclohydrolase