Lipid storage disease is a group of inborn metabolic errors caused by mutations in the gene that instruct the synthesis of lipid-metabolizing enzymes. The deficiency of enzymes decreases the catabolism of lipids. As a result, lipid accumulates in the tissues and blood. Commonly, lipids accumulate in the liver, heart, kidney, spleen, lymph nodes, and brain. However, in some types, lipids accumulate in the lungs, peripheral nerves, eyes, and joints.
There is no complete cure available.
There are ways to treat symptoms as follows:
- The faulty enzymes are replaced by drug/enzyme analogs that can perform their functions. It is called Enzyme replacement therapy. FDA-approved enzyme replacements are:
- Sebelipase alfa to treat Wolman’s disease
- Cerezyme, Velaglucerase alfa, and Taliglucerase alfa for Gaucher disease
- Agalsidase alpha, and Agalsidase beta for Fabry'S disease
- Eliglustat and Miglustat are substrate-reducing agents that control lipid synthesis.
- The non-functional enzymes can be assisted to fold into the active enzyme using pharmacological chaperones. Migalastat is one such drug used to treat Fabry’s disease.
- Hematopoietic stem cell transplantation
- Statins help maintain low lipid levels.
- Physiotherapy to loosen joints and ease mobility.
- Anti-epileptic drugs to control seizures.
- Muscle relaxants to reduce spasms.
Lack of muscle coordination,Brain degeneration,
seizures,Loss of muscle tone,Learning problems,
spasticity,Feeding and swallowing difficulties,Slurred speech
Enzyme replacement therapy (for Gaucher and Fabry diseases),Migalastat (Galafold),Antiplatelet drugs used to treat stroke helps slow down decline of kidney function seen in Fabry disease
Brain damage,Liver malfunction,Enlarged spleen and liver,Skeletal disorders and bone lesions that may cause pain and fractures,Distended abdomen,Swelling of lymph nodes and (occasionally) adjacent joints,A brownish tint to the skin,Anemia,Yellow spots in the eyes,Low blood platelets