ArticleMolecular genetics and metabolism reports2019
Selective screening for detection of mucopolysaccharidoses in Malaysia; A two-year study (2014-2016).
Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Article
- Epidemiology of Mucopolysaccharidoses Update.Diagnostics (Basel, Switzerland) · 2021Review
- Diagnosis of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Review
- Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms.Journal of clinical medicine · 2020Article
- Demographic, laboratory findings and diagnostic evaluation among high risk patients with mucopolysaccharidosis in Malaysia.Data in brief · 2019Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMucopolysaccharidoses (MPS) are a group of inherited disorders caused by the deficiency of a specific lysosomal enzyme involved in glycosaminoglycans (GAGs) degradation. This enzyme deficiency leads to accumulation of GAGs in the lysosomes, resulting in organ dysfunction and enlargement. We aimed to detect cases of MPS in patients with suggestive signs and symptoms.
methodsThis was a 2-year cross-sectional study conducted during June 2014 to May 2016. Urine and whole blood samples were taken from high-risk MPS patients. All urine samples were analysed for GAGs and characterised by high resolution electrophoresis (HRE). Whole blood was collected in ethylenediaminetetraacetic acid (EDTA) tube and analysed for specific enzymes based on the clinical history and HRE findings.
resultsFrom the 60 samples tested, 15 were positive for MPS; (Type I = 1), (Type II = 4), (Type IIIA = 3), (Type IVA = 1), (Type VI = 6). The overall prevalence of MPS among high-risk Malaysian patients was 26% (95% CI 14.72% to 37.86%). One patient had mucolipidosis. The mean age of patients when diagnosed was 5 years old. Patients with MPS were more likely to present with hepatosplenomegaly compared to other symptoms (OR = 0.974,
conclusionOne in 4 high-risk patients was diagnosed with MPS being MPS type VI the most common among Malaysian patients. Hepatosplenomegaly was the most common symptom. Patients with suspected MPS should be screened by urinary GAGs analysis and diagnosis confirmed by enzyme activity analysis.
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