Welcome to
Lysosomal Storage Disorders
Support Society (LSDSS)

Lysosomal Storage Disorders (LSDs) are a group of rare genetic diseases that are caused by mutations in genes that encode for lysosomal enzymes. Lysosomes are organelles within cells that are responsible for breaking down and recycling various molecules, such as sugars, lipids, and proteins.

When there is a mutation in a gene that encodes for a lysosomal enzyme, the enzyme may not function properly or may not be produced at all. As a result, certain molecules begin to accumulate within the lysosome, leading to a build-up of toxic substances. This can cause damage to various organs and systems within the body, leading to a wide range of symptoms.

There are over 50 different types of LSDs, each caused by a deficiency in a specific lysosomal enzyme. They include Gaucher disease, Fabry disease, Pompe disease, and Niemann-Pick disease, among others. Symptoms can vary depending on the specific LSD and can include problems with growth and development, difficulty with movement and coordination, organ damage, and neurological problems.

LSDs are inherited in an autosomal recessive manner, which means that a person must inherit two copies of the mutated gene (one from each parent) in order to develop the disorder. They are rare diseases and the incidence varies from one disorder to another, but in general, it’s estimated to affect around 1 in 7,000 live births.

Diagnosis of LSDs is based on symptoms, family history, and laboratory tests such as enzyme assays, genetic testing, and imaging studies. Treatment options include enzyme replacement therapy, gene therapy, and substrate reduction therapy, which are usually tailored to the specific LSD.

Lysosomal storage disorder symptoms vary depending on the type of disorder. One or more of these symptoms may occur:

• • • • • • • Delay in intellectual and physical development
            • Seizures
            • Facial and other bone deformities
            • Joint stiffness and pain
            • Difficulty in breathing
            • Problems with vision and hearing
            • Anemia, nosebleeds, and easy bleeding or bruising
            • Swollen abdomen due to enlarged spleen or liver
            • Severe intellectual problems including mental retardation
            • Behavioral problems including aggressive behavior and hyperactivity

Lysosomal storage diseases (LSDs) are diagnosed based on a combination of symptoms, family history, and laboratory tests.

The first step in the diagnostic process is a thorough medical evaluation, including a physical examination, review of symptoms, and a family history. This can help to identify patterns of symptoms that are characteristic of a specific LSD.

Next, laboratory tests are done to confirm the diagnosis. These tests can include:

• Enzyme assays: This test measures the activity of lysosomal enzymes in blood or fibroblasts (a type of skin cell) samples. A deficiency of a specific enzyme can indicate the presence of a specific LSD.
• Genetic testing: This test looks for mutations in the genes that encode for lysosomal enzymes. It can confirm the diagnosis of a specific LSD and identify the specific mutation present in the patient.
• Imaging studies: This test can be used to identify organ damage that is specific to certain LSDs, such as brain imaging for Gaucher disease, or heart imaging for Fabry disease.

Once a diagnosis of an LSD is made, additional tests may be performed to evaluate the extent of the disease and to monitor the patient’s response to treatment.

It’s important to note that since there are over 50 different types of LSDs, and symptoms can vary widely, the diagnostic process can be complex and may require the expertise of specialists such as a geneticist, a metabolic doctor, or a neurologist.

At present, there are approximately 600 known LSD patients in India. However, this number is only likely to be higher as many patients may be undiagnosed or misdiagnosed.

The treatment for lysosomal storage disorders (LSDs) can be very expensive for a number of reasons.

• First, LSDs are a group of rare genetic diseases, and the treatments that are available are often highly specialized and customized. The small patient population means that the development and production of these treatments is not as cost-effective as it is for more common diseases.
• Second, many LSDs are treated with enzyme replacement therapy (ERT), which involves administering the missing enzyme that is not being produced by the patient’s body. These enzymes are often derived from animal sources and are expensive to produce.
• Third, many LSDs are treated with gene therapy, which is a relatively new and experimental treatment modality. Gene therapy is a complex and highly specialized treatment and it requires a significant investment in research, development and clinical trials, which can drive up the costs.
• Lastly, in many countries, the pricing and reimbursement of these drugs are also affected by the lack of competition in the market, as there are typically only one or two companies that produce the drugs for a specific LSD.

In summary, the high cost of LSD treatments is due to the combination of the small patient population, the complexity and specialization of the treatments, the high cost of production and research and development, and the lack of competition in the market.

If you or someone you know in India has been diagnosed with an LSD, please visit your nearest Centre of Excellence (COE) with all medical reports of the patient to get the patient examined and enrolled on the Government of India’s digital portal for crowdfunding and CSR donations for rare diseases. You can find the details of your nearest COE here.

In addition, please register yourself with the LSDSS by completing this form and follow the steps in the email that will be sent to you upon registration.

Lysosomal Storage Diseases (LSDs) are genetic disorders and are caused by mutations in the genes that encode for lysosomal enzymes. Therefore, they are not preventable in the traditional sense. However, some steps can be taken to reduce the risk of passing the condition on to future generations.

One way to prevent the transmission of LSDs is through genetic counseling. This involves educating individuals and families about the genetic basis of the disorder, the inheritance pattern, the potential risks of passing the disorder on to their children, and the options available for family planning. Genetic testing can also be done to determine if an individual is a carrier of a particular LSD and help them make informed decisions about family planning.

Another way to prevent the transmission of LSDs is through preimplantation genetic diagnosis (PGD). This is a type of genetic testing that is done on embryos before they are implanted in the uterus, and it can identify embryos that are affected by a specific LSD. This can be used by couples who are at risk of passing on a specific LSD to their children and wish to have a child without the disorder.

Moreover, prenatal diagnosis is another option for preventing the transmission of LSDs. This involves testing the fetus for a specific LSD during pregnancy, which can help parents make informed decisions about continuing the pregnancy or not.

Lastly, practices like consanguineous marriages (marrying cousins or blood relatives), which are prevalent in some states and communities of India, should be avoided as these considerably increase the risk of genetic disorders in the offspring.

It’s important to note that, currently, there is no way to prevent the onset of LSDs once an individual is born with the disorder, but early diagnosis and treatment can help to manage the symptoms and improve quality of life.

In summary, while LSDs cannot be prevented, genetic counseling, preimplantation genetic diagnosis, and prenatal diagnosis can help to reduce the risk of passing the disorder on to future generations.

The treatment of Lysosomal Storage Diseases (LSDs) depends on the specific disorder and its severity, but currently, most LSDs have no cure. However, treatments are available that can help to manage the symptoms and improve the quality of life for those affected.

The most common treatment for LSDs is enzyme replacement therapy (ERT). This involves administering the missing enzyme to the patient, which can help to break down the toxic substances that are accumulating in the lysosomes. This can slow the progression of the disease and improve the symptoms, but it is not a cure. ERT is not effective for all types of LSDs, and it’s not a permanent treatment, it needs to be administered regularly for the patient’s lifetime.

Another treatment option for some LSDs is substrate reduction therapy (SRT). This involves administering drugs that can reduce the production of the toxic substrate that is causing the disease. This treatment can be effective for some LSDs, but it’s not a cure either.

Gene therapy is an experimental treatment for some LSDs, and it’s showing promising results in some cases. Gene therapy aims to correct the genetic defect that causes the disorder, but it’s still in the early stages of development and more research is needed before it can be widely available.

In summary, currently, most LSDs have no cure, but treatments are available that can help to manage the symptoms and improve the quality of life for those affected. These treatments include enzyme replacement therapy, substrate reduction therapy, and gene therapy. It’s important to note that treatments are tailored to the specific LSD and are constantly evolving as new research is done.