Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
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.
Yum
Mi-Sun
MS
Department of Pediatrics, Asan Medical Center, College of Medicine, University of Ulsan, Seoul, Republic of Korea.
Ko
Tae-Sung
TS
Yoo
Han-Wook
HW
Chung
Sun-Ju
SJ
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
D007532:Isoleucine; D013912:Threonine; D006136:GTP Cyclohydrolase