What is a Lysosomal Storage Disorder?

Lysosomal diseases are also called lysosomal storage disorders. There are more than 40 known lysosomal diseases. These diseases are all inherited, caused by a mutation or deletion of important genetic information in a person’s DNA.

This change in the DNA interrupts the body’s ability to make a specific kind of protein, called an “enzyme.” Each enzyme is responsible for breaking down, or digesting, a compound in the body.

When an enzyme is missing, the compound it should break down builds up in the body because the body does not have a way to dispose of the compound. The body stores the compound in the lysosomes, small compartments in the body’s cells. This explains the term “lysosomal storage disease.” 

As the lysosomes get more and more full, the cell can become damaged and unable to do its job. This progressive storage of materials in the lysosomes causes damage to cells and tissues, which leads to the symptoms of the disease.

While all lysosomal storage diseases have different symptoms, all the diseases are caused by this lysosomal storage of a compound that the body is unable to break down.

Cincinnati STAR Center for Lysosomal Diseases Mission

The Cincinnati STAR Center for Lysosomal Diseases at Cincinnati Children’s incorporates the word “STAR” because the letters stand for Support, Treatment, Advocacy and Research. These words highlight the services our team of experienced healthcare professionals can provide for you and your family.

Lysosomal Diseases Support

Families affected by rare diseases can feel very alone. It can be difficult to find information on the disease, and your family physician may not have answers to all your questions.

You may never meet a person with the same disease you or your family member has. Talking to one of our experienced staff members can help you to feel less alone. We will answer your and your family’s questions about the disease. We will provide you with the information you need.

We will help you schedule your visit to the Cincinnati STAR Center for Lysosomal Diseases. We can provide you with maps, local hotel information and a schedule of evaluations. We will make every attempt  to make your visit to Cincinnati comfortable and simple.

We can inform you of  patient meetings in your area. We can help you find printed and online resources. If you are interested, we may be able to introduce you to other families  with the same condition.

Lysosomal Diseases Treatment

Every individual wants  a medical treatment plan to be managed by an expert physician. The physicians and staff of the Cincinnati STAR Center for Lysosomal Diseases can work with your local physicians to coordinate and manage your medical care where you live.

We offer individualized treatment plans that fulfill your medical needs. This means that, whether you live in downtown Cincinnati,  the hills of West Virginia or among the lights of Las Vegas, you have expert physicians from the Cincinnati STAR Center for Lysosomal Diseases involved in your medical care.

Often one trip per year to Cincinnati is all it takes for you to have experts from the Cincinnati STAR Center for Lysosomal Diseases  available to you and your local physicians year-round.


The Cincinnati STAR Center staff can work with you and your family to help you with some of the challenges people with chronic diseases face.

We can help you educate your child’s teachers and school system about your child’s special needs. We can work with your insurance company to help you arrange coverage for medical care, locally and in Cincinnati.

We may be able to help you find insurance coverage for your family, if you are uninsured. We work with patient groups to help you find resources  to manage the day-to-day aspects of your medical care.


The doctors and staff of the Cincinnati STAR Center for Lysosomal Diseases are involved in state-of-the-art basic and clinical research on many lysosomal diseases.

We can provide up-to-date information on the latest research on lysosomal diseases.

We can advise you of clinical trials studying new treatments for your condition. We can help you collect information on trials performed here in Cincinnati, as well as at  hospitals around the world.

We also operate patient registries on several lysosomal storage disorders to collect information on these conditions to be used to improve medical care for these conditions.