Short answer · Medically reviewed summary · Last updated: 2026-05-08
Sialidosis is classified under the ICD-10-CM code E77.1 (Defect of glycoprotein degradation), which encompasses sialidosis, while the older ICD-9-CM code for this condition is 277.5 (Mucopolysaccharidosis). These codes are used by medical providers for diagnostic documentation and insurance billing for individuals living with this rare lysosomal storage disorder. What exactly is Sialidosis? Sialidosis is a rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme alpha-N-acetylneuraminidase (sialidase).
1 people with Sialidosis have shared their first-person experience on this question at DiseaseMaps.
ICD10 code of Sialidosis and ICD9 code
ICD-10 and ICD-9 codes for Sialidosis, with classification details for clinicians, coders and patients.
Sialidosis is classified under the ICD-10-CM code E77.1 (Defect of glycoprotein degradation), which encompasses sialidosis, while the older ICD-9-CM code for this condition is 277.5 (Mucopolysaccharidosis). These codes are used by medical providers for diagnostic documentation and insurance billing for individuals living with this rare lysosomal storage disorder.
What exactly is Sialidosis?
Sialidosis is a rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme alpha-N-acetylneuraminidase (sialidase). This enzymatic deficiency leads to the harmful accumulation of sialylated glycoproteins and oligosaccharides within various tissues of the body, particularly in the central nervous system and the retina. Because Sialidosis presents on a clinical spectrum, it is often categorized into two primary types based on the age of onset and the severity of clinical manifestations.
How is Sialidosis classified clinically?
The clinical presentation of Sialidosis is generally divided into two main categories:
- Type I (Normosomatic): Typically presents in the second or third decade of life, characterized by progressive visual impairment, a characteristic "cherry-red spot" on the macula, and myoclonus (involuntary muscle jerks).
- Type II (Dysmorphic): Often presents in infancy or early childhood, associated with more severe features including skeletal dysplasia, coarse facial features, hepatosplenomegaly, and intellectual disability.
Is Sialidosis hereditary?
Yes, Sialidosis is inherited in an autosomal recessive pattern, meaning an affected individual must inherit one mutated NEU1 gene from each parent. Genetic counseling is essential for families, as each pregnancy for carrier parents carries a 25% risk of having a child with Sialidosis. Currently, 13 individuals within the DiseaseMaps.org community have shared their experiences, highlighting the importance of connecting with others navigating this rare diagnosis.
Next steps
- Consult with a metabolic geneticist to confirm the diagnosis through enzyme activity testing or NEU1 molecular genetic testing.
- Coordinate care with a multidisciplinary team, including ophthalmologists, neurologists, and physical therapists.
- Join the DiseaseMaps community to connect with other families affected by Sialidosis for emotional support and shared experiences.
- Monitor clinical trial registries like ClinicalTrials.gov for emerging therapeutic research.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.
References
Posted Aug 11, 2017 by Trajano 5900
