Sialidosis (Mucolipidosis I) Treatment & Management

Updated: Oct 08, 2019
  • Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Medical Care

Treatment options for sialidosis remain limited and are primarily directed at supportive care and symptomatic relief. Efforts should be made to maximize overall health maintenance, providing adequate nutrition and seizure control if necessary. Myoclonic seizures often prove difficult to treat with anticonvulsant medication. Recent in vitro studies suggest a therapeutic role for a combination of a specific immunosuppressant and a proteosomal inhibitor in enhancing mutant enzyme activity. [10]

In the absence of gene replacement therapy, the present holy grail of treatment for sialidosis is enzyme replacement therapy (ERT). Thus far, attempts at ERT have been made only in animal models, with limited success. [11]



Consultation with a geneticist is indicated for initial evaluation and diagnosis and to provide genetic counseling to affected families regarding recurrence risks and the availability of prenatal diagnosis of future offspring.

Consultation with a neurologist is indicated for initial evaluation of psychomotor delay and follow-up care as the disease progresses and for anticonvulsant therapy if seizures develop.

Consultation with an ophthalmologist is indicated. The presence of cherry-red maculae, corneal clouding, or both may aid in the diagnosis of sialidosis.


Long-Term Monitoring

Serial urinary protein evaluation and periodic renal function assessment are indicated in patients with sialidosis.