Lysosomal Storage Diseases and Disorders

Written by Stephanie Watson
Medically Reviewed by Shruthi N, MD on June 06, 2025
9 min read

Lysosomal storage disorders are a group of more than 50 rare diseases. They affect the lysosome — a structure in your cells that breaks down substances such as proteins, carbohydrates, and old cell parts, allowing your body to recycle them.

Enzymes and lysosomes

People with lysosomal storage disorders lack important enzymes (proteins that speed up reactions in the body). Without those enzymes, the lysosome isn't able to break down these substances.

When that happens, proteins and other substances build up in cells and become toxic. They can damage cells and organs in the body.

This article covers some of the most common lysosomal storage disorders.

Each disorder affects a different enzyme. They include:

Fabry disease. It affects your body's ability to make alpha-galactosidase A. This enzyme breaks down a fatty substance called globotriaosylceramide. Without the enzyme, this fat builds up in cells and damages them.

Gaucher disease. A lack of glucocerebrosidase (GBA) causes this condition. This enzyme breaks down a fat called glucocerebroside. Without GBA, the fat builds up in the spleen, liver, and bone marrow.

Krabbe disease. This affects the nervous system. A lack of the enzyme galactosylceramidase causes Krabbe disease. This enzyme helps make and maintain myelin, the protective coating around nerve cells that helps nerves talk to each other.

Metachromatic leukodystrophy (MLD). You can get MLD if you don't have the enzyme arylsulfatase A. It normally breaks down a group of fats called sulfatides. Without the enzyme, these fats build up in white matter — the part of the brain that contains nerve fibers. They destroy the myelin coating that surrounds and protects nerve cells.

Mucopolysaccharidosis (MPS). This group of diseases affects enzymes that break down certain carbohydrates. The unbroken carbohydrates build up in many different organs.

Niemann-Pick disease. This is a group of disorders. The most common forms are types A, B, and C. In types A and B, people lack an enzyme called acid sphingomyelinase (ASM). ASM breaks down a fatty substance called sphingomyelin, which is found in every cell. In type C, the body can't break down cholesterol and fats in cells. Cholesterol builds up in the liver and spleen. Other fats build up in the brain.

Pompe disease.It affects the enzyme acid alpha-glucosidase (GAA). This enzyme breaks down the sugar glycogen into glucose. Without GAA, glycogen builds up in muscle cells and other cells.

Tay-Sachs disease. This is caused by a lack of the enzyme hexosaminidase A (Hex-A). This enzyme breaks down a fatty substance called GM2 ganglioside in brain cells. Without it, the fat builds up in nerve cells and damages them.

Most lysosomal storage disorders are passed down from parents to their children. Usually, a child has to inherit the faulty gene from both parents. If a child gets the gene from only one parent, they will be a carrier and won't show symptoms.

The faulty genes affect how your body makes enzymes that break down material in the cells.

Lysosomal storage diseases are rare, but some forms are more common in certain groups of people. For example, Gaucher and Tay-Sachs diseases happen more often in people of European Jewish descent.

The symptoms depend on which enzyme is missing.

Each of these conditions has different symptoms based on the cells and organs it affects.

Fabry disease symptoms

Symptoms of Fabry disease include:

Gaucher disease symptoms

Gaucher disease comes in three types, each with different symptoms. In general, symptoms include:

Krabbe disease symptoms

Krabbe disease symptoms start in the first few months of life and include:

Metachromatic leukodystrophy (MLD) symptoms

MLD comes in different forms. Symptoms can include:

  • Loss of feeling in the hands and feet
  • Seizures
  • Trouble walking and talking
  • Vision and hearing loss

Mucopolysaccharidosis (MPS) symptoms

Symptoms of MPS affect many parts of the body and can include:

Niemann-Pick disease symptoms

Symptoms of Niemann-Pick include:

Pompe disease symptoms

Symptoms of Pompe disease include:

Tay-Sachs disease symptoms

Babies with Tay-Sachs disease grow normally for the first few months of life. Then, their development slows. They lose control over their muscles. It becomes harder for them to sit, crawl, and walk. Other symptoms include:

  • A red spot in the back of the eye
  • Vision and hearing loss
  • Seizures

If you or your partner come from certain ethnic backgrounds, your doctor might recommend carrier screening to check for gene mutations linked to lysosomal storage disorders. This is usually done with a swab of your cheek or a blood test.

"Some situations during pregnancy might warrant testing of the fetus — for example, if abnormalities are detected on prenatal ultrasound," says Angelika Erwin, MD, PhD, a medical geneticist and director of the Lysosomal Storage Disease Program at Cleveland Clinic. For example, swelling of the skin on ultrasound might make the doctor recommend prenatal testing.

Prenatal screening tests include:

Amniocentesis. This test is done during the second or third trimester of pregnancy. Your doctor places a thin needle into your belly and removes a little bit of amniotic fluid from the sac around the fetus. The sample goes to a lab for genetic tests.

Chorionic villus sampling (CVS). The doctor removes a small sample of cells from the placenta and sends them to a lab for genetic tests. This test is usually done between weeks 10 and 13 of the pregnancy.

If you have a child with symptoms, tests can check for lysosomal enzymes in a sample of their blood.

The doctor might also do these tests:

  • MRI uses powerful magnets and radio waves to make pictures of the brain.
  • Biopsy removes a small piece of tissue, which a lab checks under a microscope for signs of disease.
  • Punch biopsy removes a small piece of skin with a circle-shaped blade and tests it for gene changes called mutations.
  • Urine tests measure levels of substances that the enzymes act on, which can show if any enzymes are missing.

Finding these diseases early is key. Treatments can slow lysosomal storage disorders and improve your child's outlook.

Though there isn't a cure for lysosomal storage disorders, a few treatments can help.

  • Enzyme replacement therapy delivers the missing enzyme through a vein (IV).
  • Substrate reduction therapy reduces the substance that is building up in the cells. For example, the drug miglustat (Zavesca) treats one form of Gaucher disease.
  • Stem cell transplant uses donated cells to help the body make the missing enzyme.

Treatments to manage symptoms of the disease include:

  • Medicine
  • Surgery
  • Physical therapy
  • Dialysis (a treatment that removes toxic substances from the body)

"For individuals with lysosomal storage disorders, it is important that they keep up with their treatment and disease monitoring," says Gerald Vincent Raymond, MD, professor of genetic medicine in the Department of Genetic Medicine at Johns Hopkins Medicine. Your doctor will tell you how often you or your child should have follow-up appointments.

Researchers are always working on new treatments, which they test in clinical trials. Gene therapy is a promising treatment for lysosomal storage disorders. This treatment delivers the healthy gene into the nervous system, enabling the body's cells to produce the missing enzyme. Gene editing is a treatment that fixes the gene mutations causing these disorders.

Another experimental treatment is called pharmacological chaperone therapy (PCT). It uses small molecules to bind to damaged enzymes and help them work better. A new way to deliver enzyme replacement therapy under the skin is also in development. Currently, doctors have to give this treatment through a vein.

"We're all hopeful that eventually we'll have something to offer that provides more of a curative approach than what we have at this point," says Erwin.

These are lifelong disorders that affect many organs and may worsen over time. While no lifestyle changes can cure these conditions, they may help you or your child feel better when combined with treatment.

Consider these lifestyle changes to help manage your condition:

Eat well. Your doctor and a dietitian can tailor a healthy eating plan to your type of disorder and nutritional needs. They can also recommend supplements if you're not getting enough nutrients from foods alone.

Lower your risk. Lysosomal storage disorders may increase the risk for other conditions. Try to manage all the risk factors you can control. "For example, making sure that cholesterol levels are well controlled in someone with Fabry disease who has a higher risk for stroke and cardiovascular complications," suggests Erwin. 

Stay active. Moderate-intensity aerobic exercise is important for strengthening your bones, muscles, and heart, and for preventing disease complications. Yet, it needs to be modified to your abilities, especially if you have a condition like Pompe disease that causes muscle weakness and difficulty walking. Your doctor can tell you what types of exercises are safe and realistic for you to do. Combine exercise with physical therapy if you have a condition that affects your muscles, Erwin suggests.

Care for your mental health. Emotional support is also important for your well-being. A psychologist or other mental health professional can teach you how to deal with your disease. You might also join a support group, where you'll meet other people with your condition and learn from their experiences.

Lysosomal disorders are a group of about 70 rare diseases. They affect how your body breaks down proteins, carbohydrates, and other substances. Most of these diseases are caused by a faulty gene that is passed down from parents to their children. These disorders aren't curable, but treatments like enzyme replacement therapy and substrate reduction therapy can ease symptoms and improve quality of life.

Can lysosomal storage disorders be prevented?

You can't prevent lysosomal storage disorders because they're inherited. If you or your partner carry a gene mutation for one of these disorders, you can use preimplantation genetic diagnosis (PGD) to choose embryos that don't carry the mutated gene. 

Who might have lysosomal storage diseases?

You have to inherit a faulty gene from one or both of your parents to get a lysosomal storage disease.

How common are lysosomal storage diseases?

These conditions are rare. They affect about 1 in 7,000 to 8,000 newborns.

How can I reduce my risk of lysosomal storage diseases?

You can't lower your risk of lysosomal storage diseases, but treatments can help you live better with the disorder.

What can I expect if I have a lysosomal storage disease?

Some types of lysosomal storage disease are mild, while others are severe. Proteins or other substances can build up in and damage organs such as the brain, spleen, and liver. These conditions can be life-threatening. The sooner you get diagnosed and treated, the better your outlook.

How do I take care of myself with a lysosomal storage disease?

See your doctor for treatment and get nutritional advice from a dietitian. Also, care for your emotional well-being with the help of a psychologist or other mental health provider.