[Mucopolysaccharidosis: A review].

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage diseases.
• They result from the accumulation of glycosaminoglycans (mucopolysaccharides) due to enzyme deficiencies.
• Type 1 MPS is the most prevalent form, affecting approximately 0.69–1.66 per 100,000 live births.

Purpose of the Study:

• To highlight the clinical variability and common symptoms of mucopolysaccharidoses.
• To emphasize the importance of early recognition and diagnosis for effective patient management.
• To inform about diagnostic methods and available treatments, including enzyme replacement therapy.

Main Methods:

• Review of clinical manifestations and diagnostic approaches for mucopolysaccharidoses.
• Analysis of screening methods, including urinary glycosaminoglycan analysis.
• Confirmation of diagnosis through enzyme assays and genetic testing.

Main Results:

• Mucopolysaccharidoses present with a wide spectrum of severity, from in utero lethality to adult-onset forms.
• Common clinical features include short stature, facial dysmorphism, joint pain, skeletal abnormalities, hepatosplenomegaly, and carpal tunnel syndrome.
• Ocular, neurological, and cardiac complications can occur depending on the specific MPS type.

Conclusions:

• Prompt clinical suspicion and diagnosis of mucopolysaccharidoses are crucial for timely intervention.
• Diagnostic workup involves biochemical and genetic analyses.
• Enzyme replacement therapy is available for certain types, underscoring the importance of early detection for improved management and family screening.