Lysosomal Storage Disorders

What Are Lysosomal Storage Disorders?

Gaucher disease is one of the most common lysosomal storage disorders (LSDs). LSDs are inherited disorders resulting from a lack of specific enzymes that break down certain lipids (fats) or carbohydrates (sugars) in the body cells.

If a person does not have enough of one of these enzymes, the body cannot break down the fat or carbohydrate targeted by enzymes for recycling. These fats or sugars accumulate in cell lysosomes where enzymes are active, disrupting normal function and causing lysosomal storage disorders.

All LSDs except Hunter syndrome (MPS II) and Fabry disease are autosomal recessive disorders. This means both parents must carry the abnormal gene that prevents the body from making an enzyme with normal activity.

Types of Lysosomal Storage Disorders

The scientific community has identified more than 40 types of lysosomal storage disorders, and that number keeps growing. Although the different types of LSDs are rare individually, taken together they affect roughly 1 in 7,700 births, making them a relatively common health problem.

Some of the most common lysosomal storage disorders include:

  • Gaucher disease: Gaucher disease often causes spleen and liver enlargement, blood problems and bone issues. Learn more about Gaucher disease.
  • Fabry disease: This disorder often causes severe burning pains in hands and feet and, in some cases, a distinctive skin rash on the legs. Untreated, this disease can cause kidney failure, heart failure, strokes and death before age 50. Although men are more likely to have severe disease, women may also be seriously affected.
  • Niemann-Pick disease: Similar to Gaucher disease, Niemann-Pick disease involves organ enlargement, lung dysfunction and central nervous system damage for certain subtypes.
  • Hunter syndrome: This disease is part of a group of disorders that cause bone and joint deformity as well as interference with normal growth.
  • Glycogen storage disease II (Pompe disease): Depending on the specific subtype, Pompe disease may cause heart enlargement and heart failure in infants. It may also cause respiratory problems and severe muscle weakness in adults.
  • Tay-Sachs disease: This disorder causes severe and fatal mental and physical deterioration, with both an early-onset and a late-onset form.

Lysosomal Storage Disorder Symptoms

All LSDs are progressive, meaning that they get worse over time. The rate of progression, severity of symptoms and organs affected vary among disorders and even within each disorder type. LSDs can affect different body organs or systems that include:

  • Bones and joints
  • Central nervous system
  • Eyes
  • Heart
  • Kidneys
  • Lungs
  • Spleen
  • Liver
  • Skin

Diagnosing Lysosomal Storage Disorders

It can be difficult for physicians to diagnose LSDs, because symptoms vary among the different types and individual LSDs are rare. Physicians can usually confirm a diagnosis when they recognize a pattern of symptoms, but this process may take years while doctors rule out other conditions.

Specialized laboratories offer specific tests that can confirm or rule out an LSD. Physicians diagnose Gaucher disease with a simple blood test available in your doctor’s office or local hospital. Learn more about testing for Gaucher disease. 

Treatment Options for Lysosomal Storage Disorders

At present, there are no known cures for LSDs. However, researchers continue to make progress toward treatment options that go beyond treating symptoms to address underlying causes.

Today, bone marrow transplantation, enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) are available treatment options for patients with certain types of LSDs. The scientific community continues to conduct research in the hopes of finding cures for patients with all types of LSDs. Find out more about Gaucher disease treatment options.

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