Krabbe disease (KD) is an autosomal recessive neurodegenerative disorder caused by deficiency of the galactocerebrosidase (GALC) due to variants in the GALC gene. Here, we provide the first and the largest comprehensive analysis of clinical and genetic characteristics, and genotype–phenotype correlations of KD in Korean in comparison with other ethnic groups. From June 2010 to June 2023, 10 patients were diagnosed with KD through sequencing of GALC. Clinical features, and results of GALC sequencing, biochemical test, neuroimaging, and neurophysiologic test were obtained from medical records. An additional nine previously reported Korean KD patients were included for review. In Korean KD patients, the median age of onset was 2 years (3 months–34 years) and the most common phenotype was adult‐onset (33%, 6/18) KD, followed by infantile KD (28%, 5/18). The most frequent variants were c.683_694delinsCTC (23%) and c.1901T>C (23%), while the 30‐kb deletion was absent. Having two heterozygous pathogenic missense variants was associated with later‐onset phenotype. Clinical features were similar to those of other ethnic groups. In Korean KD patients, the most common phenotype was the adult‐onset type and the GALC variant spectrum was different from that of the Caucasian population. This study would further our understanding of KD.

中文翻译：

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韩国克拉伯病患者的临床特征、GALC 变异谱和基因型-表型相关性：超过 13 年的多中心经验

克拉伯病 (KD) 是一种常染色体隐性遗传性神经退行性疾病，由半乳糖脑苷酶 (GALC) 缺陷引起，原因是半乳糖脑苷脂酶 (GALC) 基因突变GALC基因。在这里，我们与其他种族群体相比，对韩国 KD 的临床和遗传特征以及基因型-表型相关性进行了首次也是最大的综合分析。 2010年6月至2023年6月，10名患者通过测序被诊断为KDGALC。临床特征和结果GALC从医疗记录中获得测序、生化测试、神经影像学和神经生理学测试。另外九名之前报告的韩国 KD 患者也被纳入审查。在韩国 KD 患者中，中位发病年龄为 2 岁（3 个月至 34 岁），最常见的表型是成人发病（33%，6/18）KD，其次是婴儿 KD（28%，5/18）。 ）。最常见的变体是 c.683_694delinsCTC (23%) 和 c.1901T>C (23%)，而 30 kb 缺失不存在。具有两个杂合的致病性错义变异与晚发表型相关。临床特征与其他种族相似。在韩国 KD 患者中，最常见的表型是成人发病型，GALC变异谱与白人群体不同。这项研究将进一步加深我们对 KD 的理解。