How Many People Are affected by LD?

There are more than 50 disorders that fall under the umbrella of Lysosomal Disease. As a whole, Lysosomal Disease affects approximately one in every 5000 individuals worldwide. About every half hour, a child is born with a Lysosomal Disease. But the number of individuals whom each disorder affects is very low. Some of the extremely rare lysosomal disorders affect one in four million babies.

Gaucher disease, Fabry disease, and Batten disease are the most common Lysosomal diseases. Fabry disease, for instance, affects approximately one in 40,000 male babies worldwide.

Certain ethnic populations are at a greater risk of inheriting specific Lysosomal disorders.

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Why have I never heard of Lysosomal Disease?

Lysosomal Disease is not well known because each of the 50 disorders comprising Lysosomal Disease has its own set of symptoms, gene mutation, diagnosis, and treatment options. To date, these disorders, some extremely rare, have been treated separately rather than under the umbrella of Lysosomal Disease, resulting in a decreased awareness of this class of disorders as a whole. As a whole, the family of lysosomal disorders has been hidden from our view.

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What causes Lysosomal Disease?

Lysosomal Disease is an inherited group of more than 50 disorders. These disorders are caused by a genetic mutation that disrupts the affected individual’s ability to create enzymes, which are highly specialized proteins essential for survival. This disruption takes place in the lysosomes, which are small sacs inside the body's cells. Lysosomes are often referred to as the “recycling centers” of the cell because they break down unwanted material into substances that the cell can utilize. Lysosomes break down this waste matter via enzymes.

When a particular enzyme is missing or exists only in a small amount, substances in the cell, which normally would be broken down and evacuated from the lysosome, are instead able to build up. This excess accumulation inside the lysosome causes the symptoms belonging to the varied lysosomal diseases. This is also the reason why lysosomal diseases are also referred to as lysosomal storage diseases.

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How are they diagnosed?

Most lysosomal disorders are first detected through the physical appearance of symptoms present in the individual affected. Although they vary widely for each disorder, some of the hallmark symptoms of Lysosomal Disease are an enlarged abdomen, uncoordinated muscle movements, behavioral abnormalities, cloudy film over the eyes, a purplish rash on the skin, unusual facial features, bone disease and a failure to develop both mentally and physically.

Once an affected child begins to show certain physical characteristics linked to this disease family, most lysosomal disorders are diagnosed through an enzyme test. This test measures the specific enzyme through blood, urine or tissue samples and compares it to normal levels. If the enzyme is present in very low quantities, a diagnosis of a lysosomal disorder can be made. Enzyme assays are very accurate but unavailable for diagnosing all of the lysosomal disorders.

Genetic testing can also be performed to identify mutations in the specific disorder.

As with so many illnesses, early diagnosis is crucial to reduce the severity of symptoms by starting treatment as early as possible.

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What are the treatments available for Lysosomal Disease?

Since there are many different lysosomal disorders, treatments vary considerably. Currently, there is no cure for most lysosomal disorders. Much of the care is focused on managing symptoms of each specific disorder. Treatments may include physical therapy, hearing aids, pain-reducing medication, anti-epileptic drugs and nutritional therapy.

Enzyme replacement therapy and bone marrow or stem cell transplantation have proven successful in treating some lysosomal disorders. Research is currently underway to discover new approaches to cure many of the lysosomal diseases, with a particular and hopeful focus on gene therapy. Since these disorders result from an inherited genetic mutation, correcting the genetic defect before the disorder manifests is one anticipated technique that might lead to a cure in the future.

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Why are there so many different classifications for some specific Lysosomal disorders?

Lysosomal diseases are classified according to the specific enzyme mutation involved, the age of the affected individual when the symptoms begin to appear, and by the bodily systems the disorder effects. For instance, GM1 Gangliosidosis has three separate variants: Infant, juvenile and adult. This classification scheme gives useful information regarding prognosis and treatment.

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What are the signs and symptoms of Lysosomal Disease and how does it affect an individual’s health?

The health effects of Lysosomal Disease vary widely depending upon the disorder and its severity. Since there are so many lysosomal disorders, it is difficult to generalize about how each disorder will affect an individual’s health. Lysosomal disorders may affect the nervous system, the heart, lungs, liver, spleen, and skeleton to varying degrees. Most lysosomal disorders shorten the life span and cause a wide variety of symptoms.

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What is the prognosis for a person diagnosed with Lysosomal Disease?

The prognosis for Lysosomal Disease varies widely depending upon the disorder, its severity, and upon available treatment options. In general, the earlier in life the symptoms appear, the more progressive and more severe the disorder. Also, lysosomal disorders that involve neurological function are often the most severe. Some children will die very young while other individuals will live well into their adulthood, able to manage the symptoms of their disorder with various therapies and treatments.

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How should I talk to my child and his/her siblings about their carrier status?

It is best to seek the help of a genetics counselor who will explain the implication of carrier testing to you and to your child. There is the possibility that your child is a carrier of the disease, but has not manifested any of its signs or symptoms.

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What research is underway to cure Lysosomal Disease?

In the past decade, there have been great strides in treating lysosomal disorders. Universities, medical centers, private businesses, and government organizations, such as The National Institutes of Health (NIH), continually conduct research to understand, treat, and cure Lysosomal Disease.

Currently, much of the research being done focuses on cell and bone marrow transplantation, enzyme replacement therapy, and on gene therapy. Since Lysosomal Disease is inherited, there is great hope that the field of gene therapy will provide a cure in the near future for this devastating family of diseases.

For more information regarding research funding and investigations currently underway, please visit our Finding a Cure page.

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Where can I find a genetics counselor?

Ask your primary care physician to refer you to a genetics counselor in your area who’ll conduct genetic screening and counseling for you and your family. You can also visit our Resources page to find the nearest testing facility to you.

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Where can I go for help?

There are many resources available and support groups to help you better understand and manage a diagnosis. Please refer to Hide & Seek’s Resources page for a comprehensive list of organizations and medical facilities.

If you would like to share your story or read about other families’ experiences with Lysosomal Disease, please visit Seek and Connect on our website.

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