Related Experiment Video

Updated: Sep 23, 2025

Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry
08:51

Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry

Published on: June 20, 2025

297

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
PubMed

Insights

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.
Keywords:
Diagnostic proceduresMisdiagnosisMucopolysaccharidosis

More Related Videos

Technique of Conjunctival Biopsy and Direct Immunofluorescence for Diagnosing Mucous Membrane Pemphigoid05:05

Technique of Conjunctival Biopsy and Direct Immunofluorescence for Diagnosing Mucous Membrane Pemphigoid

Published on: June 17, 2025

355
Mucin Agarose Gel Electrophoresis: Western Blotting for High-molecular-weight Glycoproteins09:24

Mucin Agarose Gel Electrophoresis: Western Blotting for High-molecular-weight Glycoproteins

Published on: June 14, 2016

26.1K

Related Concept Videos

Proteoglycans01:05

Proteoglycans

Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
4.0K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.9K
Oligosaccharide Assembly01:24

Oligosaccharide Assembly

Protein glycosylation starts in the ER lumen and continues in the Golgi apparatus. Glycosyltransferases catalyze the addition of sugar molecules or glycosylation of proteins. Usually, these enzymes add sugars to the hydroxyl groups of selected serine or threonine residues to form O-linked glycans or the amino groups of asparagine residues to form N-linked glycans. Different positions on the same polypeptide chain can contain differently linked glycans.
Multiple sugar molecules that may or may...
3.0K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
264
Glycosaminoglycans01:23

Glycosaminoglycans

Glycosaminoglycans (GAGs), also known as mucopolysaccharides, are long and linear polymers comprising of specific repeating disaccharides - the amino sugar that can be N-acetylglucosamine or N-acetylgalactosamine, and a uronic acid that is usually glucuronic acid or iduronic acid.
GAGS are found in the extracellular matrix of vertebrates, invertebrates, and bacteria. Due to their polar nature they attract water, and serve as excellent lubricants or shock absorbers in an animal body.
Hyaluronic...
5.2K
Documentation of Nursing Diagnosis01:10

Documentation of Nursing Diagnosis

The nurse documents nursing diagnoses and enters them into the patient record. The identified patient's nursing diagnosis is either written out with a plan of care or entered into the electronic health record.
In some settings, data-driven computerized decision support systems are in place, allowing for more accurate nursing diagnoses. The database within one of these systems includes diagnostic labels defining characteristics, activities, and indicators for nursing. A nurse enters...
1.3K