How do lysosomal disorders cause fats and carbohydrates to build up in cells?

Lysosomes are specialized cellular organelles responsible for breaking down macromolecules using acid hydrolase enzymes. In lysosomal storage disorders, these enzymes are either absent, have reduced activity, or are not correctly targeted to the lysosome.12

Because these enzymes are essential for the normal degradation of complex compounds, their failure blocks the metabolic pathway. Consequently, substances that should be digested—including fats (such as glycolipids) and carbohydrates (such as glycosaminoglycans, oligosaccharides, and glycoproteins)—cannot be broken down. These macromolecules then accumulate within the lysosomes, leading to cellular dysfunction and the various clinical symptoms associated with these metabolic diseases.213