D2I2.
genetic

Sialidosis

Mucolipidosis type I is an inherited storage disease that results from a of the alpha-N -acetyl neuraminidase (sialidase). The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids. Both of these substances accumulate in bodily .

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Plain-language summary adapted from Wikipedia. Not medical advice.