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Updated: Jul 6, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations
Mi-Sun Yum1, Tae-Sung Ko, Han-Wook Yoo
1Department of Pediatrics, Asan Medical Center, College of Medicine, University of Ulsan, Seoul, Republic of Korea.
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.
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