mucolipidosis

mucolipidosis is a topic covered in the Taber's Medical Dictionary.

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(mū″kō-lĭp-ĭ-dō′sĭs )

ABBR: ML One of several rare, inherited lysosomal storage diseases in which abnormalities in the transport of lysosomal enzymes into lysosomes result in their accumulation in extracellular fluids or plasma. Findings include muscle and skeletal anomalies, coarsened facial features, eye abnormalities (including a visible “cherry-red spot” on the retina), and mental retardation.

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