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Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III
Min-Sun Kim1, Aram Yang2, Eu-Seon Noh1
1Department of Pediatrics, Samsung Medical Centre, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
Background:
Mucopolysaccharidosis type III (MPS III) is an autosomal recessive lysosomal storage disorder characterised by progressive neurocognitive deterioration. MPS III subtypes are clinically indistinguishable, with a wide range of symptoms and variable severity. The natural history of this disorder within an Asian population has not yet been extensively studied. This study investigated the natural history of Korean patients with MPS III.
Methods:
Thirty-four patients from 31 families diagnosed with MPS III from January 1997 to May 2020 in Samsung Medical Centre were enrolled. Clinical, molecular, and biochemical characteristics were retrospectively collected from the patients' medical records and via interviews.
Results:
18 patients had MPS IIIA, 14 had IIIB, and two had IIIC. Twenty (58.9%) patients were male. Mean age at symptom onset was 2.8 ± 0.8 years and at diagnosis was 6.3 ± 2.2 years. All patients with MPS IIIA and IIIB were classified into the rapidly progressing (RP) phenotype. The most common symptom at diagnosis was language retardation (88.2%), followed by motor retardation (76.5%), general retardation (64.7%), and hyperactivity (41.2%). Language retardation was more predominant in IIIA, and motor retardation was more predominant in IIIB. The mean age of the 13 deceased patients at the time of the study was 14.4 ± 4.1 years. The age at diagnosis and lag time were significantly older and longer in the non-survivor group compared with the survivor group (p = 0.029 and 0.045, respectively). Genetic analysis was performed in 24 patients with MPS III and identified seven novel variants and three hot spots.
Conclusion:
This study is the first to analyse the genetic and clinical characteristics of MPS III patients in Korea. Better understanding of the natural history of MPS III might allow early diagnosis and timely management of the disease and evaluation of treatment outcomes in future clinical trials for MPS III.
Insights
This study details the natural history of Korean patients with Mucopolysaccharidosis type III (MPS III), a neurocognitive disorder. Findings highlight symptom prevalence and factors influencing survival, aiding future MPS III research and treatment.
Area of Science:
- Genetics and rare diseases
- Lysosomal storage disorders
- Neurodevelopmental disorders
Background:
- Mucopolysaccharidosis type III (MPS III) is a rare, autosomal recessive lysosomal storage disorder causing progressive neurocognitive decline.
- Subtypes of MPS III are clinically similar, presenting with varied symptoms and severity.
- The natural history of MPS III in Asian populations remains understudied.
Purpose of the Study:
- To investigate the clinical and genetic characteristics of Korean patients with MPS III.
- To describe the natural history and identify factors affecting survival in this population.
- To establish a foundation for early diagnosis and future therapeutic strategies.
Main Methods:
- Retrospective analysis of 34 patients (31 families) diagnosed with MPS III between 1997 and 2020.
- Collection of clinical, molecular, and biochemical data from medical records and interviews.
- Genetic analysis performed on 24 patients to identify variants and hot spots.
Main Results:
- 18 MPS IIIA, 14 MPS IIIB, and 2 MPS IIIC cases identified; 58.9% were male.
- Mean age at onset: 2.8 years; mean age at diagnosis: 6.3 years.
- Language and motor retardation were the most common symptoms; IIIA showed more language, IIIB more motor deficits. Older age at diagnosis and longer lag time correlated with non-survival. Seven novel variants and three hot spots were identified.
Conclusions:
- This study provides the first comprehensive analysis of MPS III genetic and clinical features in Korea.
- Understanding the natural history is crucial for early diagnosis, timely management, and evaluating treatment efficacy.
- Findings contribute to improved clinical trial design and patient care for MPS III.
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