Sung Juyoung, Kim Insung, Im Minji, Ahn Yoon Ji, Kim Sang-Mi, Jang Ja-Hyun, Park Hyung-Doo, Jeon Tae Yeon, Ko Kyung Rae, Park Se-Jun, Lee Jun Hwa, Kim Eun Young, Cheon Chong Kun, Kang Eungu, Moon Jung-Eun, Sohn Young Bae, Lin Hsiang-Yu, Chuang Chih-Kuang, Lin Shuan-Pei, Cho Sung Yoon
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Mol Genet Metab Rep. 2025 Jan 15;42:101189. doi: 10.1016/j.ymgmr.2025.101189. eCollection 2025 Mar.
Mucopolysaccharidosis (MPS) IVA (Morquio A syndrome) is an autosomal recessive lysosomal storage disorder caused by a mutation affecting the enzyme -acetylgalactosamine-6-sulfatase (EC 3.1.6.4, GALNS). Enzyme replacement therapy (ERT) has been shown to improve physical performance, quality of life, and respiratory function in patients with MPS IVA; however, owing to the rarity of MPS IVA, data on Korean patient characteristics are limited. This retrospective study reports clinical, radiographic, biochemical, and molecular findings, and analyzes long-term clinical outcomes, from the largest cohort of Korean patients with MPS IVA in a single center. The analysis included 17 patients from 14 families (58.8 % females; median [range] age at diagnosis 5.2 [1.8-33.7] years). The majority of patients (64.7 %) were classified as having a severe phenotype, 23 % had an intermediate phenotype, and 11.8 % had an attenuated phenotype. Skeletal manifestations and radiologic abnormalities at initial diagnosis included gait abnormality (35.3 %), short stature (23.5 %), chest deformity (23.5 %), scoliosis (17.6 %), kyphosis (11.8 %), dysmorphic face (6 %), hip pain (6 %), and leg deformity (6 %). Twelve different mutations were identified. Patients received ERT for a median (range) 7.4 years (3.0-12.1). Twelve patients reached final adult height, and all patients with the severe/intermediate phenotype had short stature (<3rd percentile). Hemiepiphysiodesis was the most common surgical intervention among patients with the severe/intermediate phenotype. Drug-related adverse events (urticaria, rash, and anaphylaxis) were reported in four patients but were managed with antihistamines or desensitization. At follow-up, patients experienced improvements in functional independence measure score, ejection fraction, and the 6-min walk test compared with the pre-treatment baseline. This study provides real-world evidence for long-term stabilization of functional independence, endurance, and respiratory function among patients treated with ERT, with no new safety concerns identified.
黏多糖贮积症IVA型（莫尔基奥A综合征）是一种常染色体隐性溶酶体贮积病，由影响酶N - 乙酰半乳糖胺 - 6 - 硫酸酯酶（EC 3.1.6.4，GALNS）的突变引起。酶替代疗法（ERT）已被证明可改善黏多糖贮积症IVA型患者的身体机能、生活质量和呼吸功能；然而，由于黏多糖贮积症IVA型罕见，韩国患者特征的数据有限。这项回顾性研究报告了单一中心最大规模韩国黏多糖贮积症IVA型患者队列的临床、影像学、生化和分子学发现，并分析了长期临床结果。分析纳入了来自14个家庭的17名患者（女性占58.8%；诊断时年龄中位数[范围]为5.2[1.8 - 33.7]岁）。大多数患者（64.7%）被归类为严重表型，23%为中间表型，11.8%为轻度表型。初始诊断时的骨骼表现和放射学异常包括步态异常（35.3%）、身材矮小（23.5%）、胸部畸形（23.5%）、脊柱侧弯（17.
