Lysosomal Storage Disease: Causes, Symptoms, Diagnosis, And Treatment

Lysosomal storage diseases are a group of 50 rare diseases that affect 1 in every 5,000 live births. These 50 rare diseases affect different parts of the body, including heart, skin, brain, skeleton, and central nervous system.

What Causes Lysosomal Storage Disease ^[1]

Lysosomal storage disease is an inherited disorder that occurs when there is a lack of specific enzymes that help break down fats and carbohydrates in the cells of the body. When there is an absence in these enzymes, the body is unable to break down the carbohydrates and fat, causing it to accumulate in the cell lysosomes where the enzymes are active. As a result, it disrupts the normal functioning of the body causing Lysosomal storage disease.

Some of the most common lysosomal storage disorders are Gaucher disease, Fabry disease, Hunter syndrome, Niemann-Pick disease, Tay-Sachs disease, and Glycogen storage disease II (Pompe disease) ^[2] .

Symptoms Of Lysosomal Storage Disease ^[3]

The symptoms vary depending on which enzyme is missing and these include the following:

• Pain, numbness or burning sensation in the hands and feet
• Body ache
• Fever
• Tiredness
• Swelling in the ankles, lower legs and feet
• Diarrhoea
• Constipation
• Difficulty in breathing
• Red or purple skin sores
• Dizziness
• Ringing in the ears and hearing loss
• Heart attack and stroke
• Joint pain
• Eye problems
• Anaemia
• Enlarged spleen and liver
• Tiredness
• Seizures
• Muscle weakness
• Difficulty in walking
• Muscle spasms

Diagnosis Of Lysosomal Storage Disease ^[4]

It might be difficult to diagnose this disease, because the symptoms differ in each type of Lysosomal storage disease. However, the doctor can do certain diagnostic tests, such as blood tests, MRI, and biopsy.

Treatment Of Lysosomal Storage Disease

There is no cure for this disease, however, some treatment options are available and these include the following:

• Enzyme replacement therapy - It involves intravenous infusions (IV) that replaces the missing enzyme through a vein ^[5] .
• Stem cell transplant - This treatment method is used to treat patients with lysosomal storage disease by providing a population of cells with the capacity to produce the missing enzymes ^[6] .