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Misdiagnosis in mucopolysaccharidoses
Karolina Wiśniewska1, Jakub Wolski2, Lidia Gaffke1
1Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland.
Journal of Applied Genetics
|May 13, 2022
Summary
Mucopolysaccharidosis (MPS) is a rare group of metabolic diseases causing glycosaminoglycan (GAG) buildup. Misdiagnosis is common due to varied symptoms, often mistaken for neurological or orthopedic conditions.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Mucopolysaccharidosis (MPS) encompasses 13-14 rare hereditary metabolic disorders.
- Characterized by enzymatic defects leading to glycosaminoglycan (GAG) accumulation in lysosomes.
- GAG storage disrupts cellular and organ function, causing multi-systemic disease.
Purpose of the Study:
- To highlight diagnostic challenges in MPS.
- To discuss common misdiagnoses of MPS.
- To propose strategies for improving MPS diagnosis.
Main Methods:
- Review of existing literature on MPS diagnosis and misdiagnosis.
- Analysis of symptom overlap between MPS and other conditions.
- Identification of potential diagnostic improvements.
Main Results:
- MPS presents significant diagnostic challenges due to rarity and heterogeneity.
- Symptoms often mimic neurological disorders (e.g., autism spectrum disorders) and orthopedic conditions (e.g., juvenile idiopathic arthritis).
- Misdiagnosis is frequent, leading to delayed or incorrect treatment.
Conclusions:
- Early and accurate diagnosis of MPS is crucial for effective management.
- Increased awareness and specific diagnostic pathways are needed.
- Reducing misdiagnosis requires understanding symptom variability and differential diagnoses.
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