Sialidosis

Common Name(s)

Sialidosis

Sialidosis is a rare genetic condition caused by changes (mutations) in the NEU1 gene which cause not enough NEU1 enzyme to be made. The NEU1 enzyme helps the cells in our body breakdown a particular type of sugar. Without the enzyme, this sugar builds up in nerve cells and bone marrow. There are two main types of sialidosis: Type 1 is a milder form with symptoms usually developing in the teen years and Type 2 is more severe and is broken down into three subtypes: congenital (symptoms develop in the fetus before birth), infantile (symptoms develop soon after birth) or juvenile (symptoms develop in late childhood).

Timing and severity of the symptoms will vary with type, but in general many organs and tissues are affected. Common symptoms include red spots in the eyes (cherry red spots), swelling throughout body, vision problems, leg tremors, involuntary muscle contractions, low muscle tone, and seizures. People with sialidosis may also have “coarse” facial features, including a flat nose, puffy eyelids, large gums, and a large tongue. Sialidosis is progressive, meaning it gets worse over time.

Type 1 does not affect life expectancy or intelligence, but a wheelchair may be needed in adulthood. Babies with congenital type 2 usually die before or shortly after birth. Children with infantile type 2 usually develop intellectual disabilities and hearing loss and are shorter than average children. Sadly they usually do not live beyond their early teen years. Juvenile type 2 may affect intellectual abilities and life expectancy depends on the severity of symptoms.

The diagnosis is confirmed by genetic testing. Although there is no cure, there are treatments which may help manage the symptoms. Research is ongoing, so talk to your child’s doctor about current treatment options. Genetic counselors and support groups are also good resources of information and can help connect you with other families affected by the sialidosis.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sialidosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Sialidosis" returned 30 free, full-text research articles on human participants. First 3 results:

Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis.
 

Author(s): Wenjun Zou, Xin Wang, Guohong Tian

Journal:

 

Sialidosis is a rare lysosomal storage disorder characterized by deficiency of alpha-N-acetyl neuraminidase. The macular cherry-red spot, which could be important for diagnosis, is a distinctive feature of its ocular manifestation. We evaluated the fundus autofluorescence (FAF) and ...

Last Updated: 23 Mar 2016

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Sialidosis type I: ophthalmological findings.
 

Author(s): Isa Sobral, Maria da Luz Cachulo, João Figueira, Rufino Silva

Journal:

 

Sialidosis is a lysosomal storage disease caused by deficit of neuraminidase. It is an autosomal recessive disease, heterogeneous in its onset, presentation and prognosis. We report a case of a male patient with molecular and enzymatic confirmation of the diagnosis. Symptoms began ...

Last Updated: 17 Oct 2014

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NEU1 mutation in a Korean infant with type 2 sialidosis presenting as isolated fetal ascites.
 

Author(s): Yeoun-Joo Lee, Seung-Kook Son, Jae-Hong Park, Ji-Sun Song, Chong-Kun Cheon

Journal: Pediatr Neonatol. 2015 Feb;56(1):68-9.

 

Last Updated: 28 Jan 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sialidosis" returned 1 free, full-text review articles on human participants. First 3 results:

Sialidosis: a review of human neuraminidase deficiency.
 

Author(s): J A Lowden, J S O'Brien

Journal: Am. J. Hum. Genet.. 1979 Jan;31(1):1-18.

 

Last Updated: 29 Jun 1979

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Mucolipidosis Disorder Type I, II, III or IV
 

Status: Recruiting

Condition Summary: Mucolipidosis Type I; Mucolipidosis Type II; Mucolipidosis Type III; Mucolipidosis Type IV; Mucolipidosis

 

Last Updated: 25 Aug 2016

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