Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III

IF 1.9 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2025-10-10 DOI:10.1016/j.ymgmr.2025.101267

Joo-Hyun Seo , Wakana Sou , Yasutsugu Chinen , Torayuki Okuyama

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引用次数: 0

Abstract

Mucopolysaccharidosis type III (MPS III) is an autosomal recessive lysosomal storage disorder characterized by severe progressive neurocognitive deterioration. Currently, no definitive treatment for MPS III is available, although novel therapies are being developed. This retrospective study characterized the natural history, clinical symptoms, treatment strategies, and cognitive development of MPS III in Japan, which will provide the basis for evaluating the efficacy of new therapies. Twelve patients (three with MPS IIIA, nine with MPS IIIB) registered in the Japan Registration System for Metabolic & Inherited Diseases or their parents completed survey questions on patient background, diagnostic information, treatment history, and developmental age (DA). Mean age at diagnosis was 4 years and 7 months (standard deviation: 1 year and 6 months), with no notable difference between MPS IIIA and IIIB. All 12 patients had substantial developmental delay and progressive decline, as demonstrated by plotting DA against chronological age, as well as bone deformity, dysmorphic facial features (hirsutism), impaired motor and language development (language delay, hyperactivity, gait disorder), and sleep disturbance. Developmental delay had begun by approximately 3 years old when DA was usually first assessed, with regression occurring thereafter; regression was more gradual in MPS IIIB than in MPS IIIA. Most patients received daily care (e.g., tubal feeding) and medications to control symptoms (e.g., anticonvulsants). This was the first study to evaluate changes in DA, clinical symptoms, and treatment of patients with MPS III in Japan. These results can be used as natural history data in the future evaluation of new treatments.

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日本粘多糖病患者的自然病史、临床症状和认知发展

摘要粘多糖病III型（MPS III）是一种常染色体隐性溶酶体贮积症，以严重的进行性神经认知功能减退为特征。目前，虽然正在开发新的治疗方法，但MPS III没有明确的治疗方法。本研究对日本MPS III型的自然病史、临床症状、治疗策略和认知发展进行回顾性研究，为评价新疗法的疗效提供依据。在日本代谢与遗传疾病登记系统登记的12例患者（3例MPS IIIA， 9例MPS IIIB）或其父母完成了关于患者背景、诊断信息、治疗史和发育年龄（DA）的调查问题。诊断时平均年龄为4岁7个月（标准差为1岁6个月），MPS IIIA与IIIB无显著差异。所有12例患者均有明显的发育迟缓和进行性衰退，如DA与实足年龄的关系图所示，以及骨骼畸形、畸形面部特征（多毛）、运动和语言发育受损（语言迟缓、多动、步态障碍）和睡眠障碍。发育迟缓在大约3岁时开始，通常是第一次评估DA，此后出现倒退；MPS IIIB组比MPS IIIA组回归更缓慢。大多数患者接受日常护理（如输卵管喂养）和药物控制症状（如抗惊厥药）。这是日本第一个评价MPS III患者DA、临床症状和治疗变化的研究。这些结果可作为未来评价新治疗方法的自然历史数据。

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.