How do mutations in lysosomal enzymes manifest in patients?

Mutations in lysosomal enzymes typically lead to a range of metabolic disorders because these enzymes are crucial for the breakdown of various biomolecules within the lysosomes. When the enzymes are mutated, they fail to function properly, resulting in the accumulation of substrates that would normally be degraded. This accumulation can impair the function of cells and tissues, leading to organ dysfunction.

Organ dysfunction occurs because the lysosomal storage diseases can affect multiple organ systems, including the liver, spleen, heart, and nervous system. For instance, in conditions such as Gaucher disease or Fabry disease, the buildup of undigested molecules can disrupt normal cellular operations, leading to symptoms such as enlargement of organs (hepatosplenomegaly), skeletal deformities, or neurological issues.

While infections, behavioral changes, and skin disorders can be associated with various diseases, they are not the primary manifestations of lysosomal enzyme mutations. The primary concern is the dysfunction of the organs affected by the metabolic disturbances caused by the lack of enzyme activity. Thus, the correct answer accurately captures the main clinical consequences faced by patients with mutations in lysosomal enzymes.