Diagnostic strategy for mucolipidosis II/III.

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Mucolipidosis (ML) and mucopolysaccharide disorders (MPS) present overlapping clinical phenotypes, complicating diagnosis.
• Accurate and early diagnosis is crucial for effective management of these rare genetic disorders.

Purpose of the Study:

• To evaluate a prompt and specific colorimetric screening method for Mucolipidosis II/III (ML II/III).
• To differentiate ML II/III from other mucopolysaccharide disorders (MPS) in children.

Main Methods:

• A cohort of 147 children suspected of ML or MPS and 100 controls were screened.
• Colorimetric assay using p-nitrocatechol sulfate (pNCS) substrate was employed for ML II/III screening.
• Plasma enzyme activity was measured for confirmatory diagnosis.

Main Results:

• The screening test demonstrated high specificity for ML II/III.
• Six children tested positive for ML II/III, with confirmed elevated plasma enzyme activity.
• Among the remaining 141 children screened negative for ML II/III, 42 (28.5%) were diagnosed with various MPS disorders.

Conclusions:

• The developed colorimetric method is a reliable and specific tool for estimating ML II/III.
• This screening approach aids in differentiating ML II/III from MPS, improving diagnostic efficiency.