Lysosomal Storage Disorders

Category: General Science — Human Genetics and Medicine

Lysosomal storage disorders are a group of inherited metabolic diseases in which substances accumulate inside cells because lysosomes cannot properly break down particular molecules.

Key facts

  • Lysosomes are cell organelles containing enzymes that digest and recycle cellular materials.

  • Many lysosomal storage disorders result from deficiencies in specific lysosomal enzymes.

  • The resulting accumulation may damage the brain, liver, spleen, bones, muscles and other organs.

  • Most are inherited in an autosomal recessive pattern, although exceptions exist.

Examples

Disorder

Main feature

Gaucher disease

Accumulation of glucocerebroside-related material

Tay–Sachs disease

GM2 ganglioside accumulation, particularly affecting neurons

Fabry disease

Glycosphingolipid accumulation; typically X-linked

Pompe disease

Glycogen accumulation, especially affecting muscles

Niemann–Pick disease

Certain types involve sphingolipid accumulation and organ damage

Diagnosis and treatment

  • Diagnosis may involve enzyme assays, genetic testing and biochemical investigations.

  • Treatment varies by disorder and may include enzyme replacement therapy, substrate reduction therapy or supportive care.

  • Early diagnosis can improve management and outcomes in several conditions.

UPSC key pointers

  • Lysosomal storage disorders are generally genetic and metabolic.

  • The underlying problem is impaired breakdown or transport of particular substances.

  • Pompe disease is associated with glycogen accumulation.

  • Fabry disease is typically X-linked, unlike most lysosomal storage disorders.