Short answer · Medically reviewed summary · Last updated: 2026-05-08
Sialidosis, also known as mucolipidosis I, is a rare lysosomal storage disorder characterized by a deficiency of the enzyme alpha-N-acetylneuraminidase. Because this condition has been historically classified in various ways, patients may encounter it under several synonyms in medical literature, including neuraminidase deficiency and sialidase deficiency. What are the historical and alternative names for Sialidosis? Over the decades, Sialidosis has been described using several terms that reflect its clinical presentation and underlying enzymatic cause.
Sialidosis synonyms
Other names for Sialidosis: synonyms, acronyms and related terms used by doctors and patients.
Sialidosis, also known as mucolipidosis I, is a rare lysosomal storage disorder characterized by a deficiency of the enzyme alpha-N-acetylneuraminidase. Because this condition has been historically classified in various ways, patients may encounter it under several synonyms in medical literature, including neuraminidase deficiency and sialidase deficiency.
What are the historical and alternative names for Sialidosis?
Over the decades, Sialidosis has been described using several terms that reflect its clinical presentation and underlying enzymatic cause. The name Sialidosis is currently the preferred medical term, as it accurately describes the accumulation of sialylated glycoproteins. Older literature often refers to the condition as "mucolipidosis I," a classification term that was used before the specific enzymatic defect was fully understood. Other synonyms you may encounter include:
- Neuraminidase deficiency
- Sialidase deficiency
- Mucolipidosis type I (ML I)
- Alpha-N-acetylneuraminidase deficiency
Why are there so many names for Sialidosis?
The variety of names for Sialidosis stems from the evolution of biochemical and genetic research. In the past, disorders were often grouped based on similar clinical symptoms (such as "mucolipidosis"). As diagnostic technology advanced, researchers identified that Sialidosis is caused specifically by a mutation in the NEU1 gene. Consequently, medical nomenclature shifted toward the biochemical cause (neuraminidase deficiency) rather than the older, broader clinical category.
How is Sialidosis classified in major systems?
Standardized databases use specific identifiers to ensure clinical consistency. In the Online Mendelian Inheritance in Man (OMIM) database, Sialidosis is indexed as OMIM #256550. Orphanet classifies the condition under the identifier ORPHA:817, and it is categorized within the ICD-10 system as E77.1. These official codes are essential for clinicians when documenting the diagnosis in patient records.
Next steps
- Consult with a metabolic specialist or clinical geneticist to confirm your diagnosis using current nomenclature.
- Connect with the 13 members of the Sialidosis community on DiseaseMaps.org to share experiences and navigate diagnostic terminology.
- Review your medical records to ensure the term Sialidosis or its specific ICD-10 code (E77.1) is used for insurance and clinical clarity.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Sialidosis
- Orphanet: Sialidosis (ORPHA:817)
- OMIM (Online Mendelian Inheritance in Man): Sialidosis (Entry #256550)
- National Organization for Rare Disorders (NORD): Sialidosis Overview
