Mucolipidoses

A type of storage disorder in which the body tissues accumulate abnormal and damaging amounts of certain compounds, called mucolipids, due to lack of enzymes needed to break them down.


A collection of uncommon metabolic conditions where a specific enzyme deficiency leads to an unusual buildup of lipids and substances known as mucopolysaccharides within cells. These disorders manifest during childhood and might result in cognitive challenges along with various physical irregularities.


 


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