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Selective screening for detection of mucopolysaccharidoses in Malaysia; A two-year study (2014-2016)
Affandi Omar1, Julaina A Jalil1, Norashareena M Shakrin1
1Biochemistry Unit, Specialised Diagnostic Centre, Institute for Medical Research, Ministry of Health Malaysia, Jalan Pahang, 50588 Kuala Lumpur, Malaysia.
Introduction:
Mucopolysaccharidoses (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.
Methods:
This 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.
Results:
From 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, p < .05).
Conclusion:
One 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.
Insights
Mucopolysaccharidoses (MPS) are inherited disorders affecting GAGs degradation. This study found 26% of Malaysian patients had MPS, with Type VI being most common and hepatosplenomegaly a frequent symptom.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Mucopolysaccharidoses (MPS) are inherited lysosomal storage diseases.
- Deficiency in specific enzymes impairs glycosaminoglycans (GAGs) degradation.
- Accumulated GAGs cause organ dysfunction and enlargement.
Purpose of the Study:
- To detect Mucopolysaccharidoses (MPS) in patients with suggestive clinical signs.
- To determine the prevalence of MPS in a high-risk Malaysian population.
Main Methods:
- A 2-year cross-sectional study (June 2014-May 2016) analyzed urine and blood samples from 60 high-risk patients.
- Urine samples underwent GAGs analysis and high-resolution electrophoresis (HRE).
- Blood samples were tested for specific enzyme activities based on clinical presentation and HRE findings.
Main Results:
- 15 out of 60 patients (26%) were diagnosed with MPS, including types I, II, IIIA, IVA, and VI.
- MPS Type VI was the most prevalent among diagnosed cases.
- Hepatosplenomegaly was the most common presenting symptom in MPS patients (OR=0.974, p<.05).
- One patient was diagnosed with mucolipidosis.
Conclusions:
- The study identified a significant prevalence (26%) of MPS among high-risk Malaysian patients.
- MPS Type VI and hepatosplenomegaly were the most common findings.
- Screening via urinary GAGs analysis followed by enzyme activity confirmation is recommended for suspected MPS cases.
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