Disorder - Lysosomal storage disease

Organ Systems Involved
Nervous/sensory

Alternative disorders described within LIDA

Chediak-Higashi syndrome

Presenting Signs

Lysosomes are compartments inside cells that contain enzymes for digesting large cellular molecules. Lysosomal storage disease is caused by a deficiency of enzyme(s) within the lysosomes. This causes products to accumulate within cells, interfering with normal cell functions.

Lysosomal storage disease affects multiple body systems. Symptoms vary depending on the enzymes that are deficient and the type of storage found. Most problems occur in the central nervous system. Nervous system signs may include behavioural changes, loss of learned behaviour, vacancy, ataxia (incoordination of muscle movements), abnormal body positions or movements due to lack of normal perception, apparent blindness, deafness and seizures. Often many neurological storage diseases begin with symptoms relating to the cerebellum of the brain, and the inner ear (called cerebellovestibular signs). These may include tremor, ataxia, dysmetria (inability to properly direct or limit motions) and nystagmus (rhythmic, oscillating movements of the eyes), and progress to partial or complete paralysis. Lysosomal storage disease may affect the eyes. As storage materials accumulate, the cornea (transparent front part of the eye) may become opaque and cataracts may form. This means that the animal’s vision may be impaired. Lysosomal storage disease can cause changes to the skeletal system and the connective tissue (fibrous tissues), e.g. facial deformity.

Cats at Risk

No gender predilection and males and females are affected with equal frequency. Most lysosomal storage diseases are recognised in immature animals but some affect mature animals.

Breeds Affected
Balinese
Korat
Persian
Siamese


Treatment

Surgical and medical. Bone marrow transplantation, enzyme replacement and gene replacement have been used experimentally with some success.

PubMed References
Lysosomal storage disease

Contributor
Jennifer Go