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"Trafficking Disorders: Phenotypical Similarities and Differences With Other IMDs".
Ángeles García-Cazorla1, Eva Morava2, Jean-Marie Saudubray3
1Neurometabolic Unit and Synaptic Metabolism Laboratory. Department of Neurology, Hospital Sant Joan de Déu, IRSJD, CIBERER and MetabERN, Barcelona, Spain.
Journal of Inherited Metabolic Disease
|February 22, 2025
Summary
Cell trafficking disorders (CTD) are genetic defects impacting complex molecules, often misdiagnosed. Recognizing CTD as a distinct group is crucial for accurate diagnosis and treatment of these multisystem inherited metabolic diseases.
Area of Science:
- Biochemistry
- Genetics
- Immunology
Background:
- Cell trafficking disorders (CTD) represent the largest category of inborn errors of metabolism (IEM), stemming from genetic defects in complex molecules.
- They are often overlooked as isolated rare diseases rather than a cohesive group, particularly by non-metabolic specialists.
- Complex lipid metabolism is intrinsically linked to cell trafficking and organelle interactions at membrane contact sites.
Purpose of the Study:
- To highlight cell trafficking disorders (CTD) as a significant and under-recognized category of inborn errors of metabolism (IEM).
- To emphasize the characteristic multisystemic manifestations of CTD, including neurological and immune system involvement.
- To discuss the diagnostic challenges and limited biomarkers associated with CTD.
Main Methods:
- Review of genetic defects affecting complex molecules and cell trafficking pathways.
- Analysis of clinical presentations, including multisystem manifestations and neurological involvement.
- Comparison of CTD with other inborn errors of metabolism (IEM) such as mitochondrial, peroxisomal, lysosomal disorders, CDG, and autophagy disorders.
Main Results:
- CTD involve mutations in over 370 genes, impacting complex lipid metabolism and organelle interactions.
- Clinical features are diverse, affecting multiple organ systems and mimicking other IEMs; neurological and immune system involvement are particularly characteristic.
- Most CTD are progressive, may present with metabolic crises, and are typically diagnosed via exome sequencing, with few available biomarkers.
Conclusions:
- Cell trafficking disorders (CTD) constitute a major, yet underappreciated, category of inborn errors of metabolism (IEM) requiring broader recognition.
- The multisystemic nature and unique immune system involvement in CTD necessitate specialized diagnostic approaches.
- Further research into biomarkers and diagnostic strategies is essential for improved management of CTD.
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