Educational Content: This article is for informational purposes only and does not constitute medical advice. Always consult a healthcare provider for diagnosis and treatment.
Definition of Mucolipidosis I
Medically reviewed by Dr. Otari Nergadze, Neurosurgeon | Updated: January 2026
Mucolipidosis I: A type of mucolipidosis that is characterized by deficiency of the enzyme neuraminidase (sialidase). There are two forms of the disease. One form is characterized by cherry red spots in the eyes, gradual loss of vision, progressive debilitating myoclonus (muscle spasms), and normal intelligence. The other form of the disease, in addition to featuring the symptoms of the first form, causes a coarse face, bony abnormalities, and sometimes early death. Also known as sialidosis.
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