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Lysosomal Storage Disorders (LSDs): Causes, Types and Treatment
Lysosomal storage disorders are a group of more than 70 rare inherited conditions in which the body cannot break down certain substances inside its cells. This guide explains what they are, how they are diagnosed and treated, and where families in India can find help.
Key facts
What they are
More than 70 rare inherited disorders of the lysosome, the cell’s recycling centre
How common
Together, about 1 in 5,000 to 1 in 8,000 births
Inheritance
Mostly autosomal recessive; a few, such as Fabry disease and MPS II, are X-linked
Treatment
Enzyme replacement and other therapies exist for several LSDs; supportive care helps all
In India
Gaucher disease and MPS are the most commonly diagnosed
Overview
What are lysosomal storage disorders?
Every cell in the body contains tiny compartments called lysosomes. They work like recycling centres, using enzymes to break down fats, sugars and other substances so that the cell can reuse them.
In a lysosomal storage disorder, a change in a gene means that one of these enzymes, or a protein that helps it, is missing or does not work properly. The substance it should break down slowly builds up, or is “stored”, inside the cells. Over time this damages tissues and organs.
Which organs are affected, and how quickly, depends on the substance that builds up. Some LSDs mainly affect the liver, spleen and bones; others affect the muscles, heart, kidneys, skin or brain.
How an LSD develops
01
A change in a gene
It is inherited from one or both parents, so it is present from birth even if symptoms start later.
02
A missing or faulty enzyme
The lysosome can no longer break down one particular substance.
03
Build-up and damage
The substance collects inside cells and gradually harms organs and tissues.
LSDs commonly diagnosed in India
Gaucher disease and MPS are the most commonly diagnosed LSDs in India. Choose a condition to learn about its symptoms, treatment and support.
Sphingolipidosis
Fatty substances build up in the spleen, liver and bones.
Mucopolysaccharidosis
Complex sugars build up in bones, joints and organs.
Gangliosidosis
A fatty substance builds up in nerve cells and, in babies, in other organs and bones.
Gangliosidosis
A fatty substance builds up in nerve cells of the brain and spinal cord.
Glycogen storage disorder
Glycogen builds up in muscles, weakening the heart and breathing muscles.
Leukodystrophy
Sulfatides build up and damage the protective covering of nerves.
Lipid storage disorder
Fats build up in the spleen, liver, lungs and brain.
Sphingolipidosis
Fatty substances build up in blood vessels, kidneys, heart and nerves.
LSDSS supports families living with any lysosomal storage disorder, including the rarer ones listed below. Contact us if you need help.
Signs and symptoms
Common signs of lysosomal storage disorders
Symptoms vary widely between LSDs, and from person to person. They can begin at birth, in childhood or in adulthood, and usually get worse over time. Signs that can point to an LSD include:
- An enlarged liver or spleen, causing a swollen abdomen
- Bone pain, bone changes, short stature or stiff joints
- Coarse facial features, or frequent ear and chest infections
- Muscle weakness, breathing problems or heart problems
- Delayed development, or loss of skills already learned
- Seizures, loss of vision or hearing, or burning pain in the hands and feet
When to ask about testing
Ask a doctor, ideally a geneticist, about testing for an LSD if:
- Several of these signs appear together
- Symptoms keep getting worse over time
- A brother, sister or other relative has an LSD
- The parents are related by blood
LSDs are often mistaken for more common conditions. A Centre of Excellence for rare diseases can arrange the right tests.
Types of lysosomal storage disorders
More than 70 LSDs are known. Doctors group them by the substance that builds up. These are the main groups, with examples of the conditions in each.
Sphingolipidoses
Fatty substances called sphingolipids build up.
Mucopolysaccharidoses (MPS)
Long sugar chains called glycosaminoglycans build up.
Other lipid storage disorders
Cholesterol and other fats build up.
- Niemann-Pick disease type C
- Lysosomal acid lipase deficiency (Wolman disease and cholesteryl ester storage disease)
Glycoproteinoses
Sugar chains attached to proteins build up.
- Alpha-mannosidosis
- Beta-mannosidosis
- Fucosidosis
- Aspartylglucosaminuria
- Sialidosis
- Galactosialidosis
- Schindler disease
Mucolipidoses
Several substances build up, often because enzymes do not reach the lysosome.
- Mucolipidosis II (I-cell disease)
- Mucolipidosis III
- Mucolipidosis IV
Neuronal ceroid lipofuscinoses (Batten disease)
Fatty, protein-rich material builds up, mainly in the brain and eyes.
- CLN1 disease (infantile)
- CLN2 disease (late-infantile)
- CLN3 disease (juvenile)
- CLN5 to CLN8 and other forms
Lysosomal transport disorders
A substance cannot be moved out of the lysosome.
- Cystinosis
- Free sialic acid storage disorders, including Salla disease
Other lysosomal disorders
Conditions that do not fit the groups above.
- Multiple sulfatase deficiency
- Pycnodysostosis
Older lists sometimes include Niemann-Pick type D, which is now known to be a form of type C, and “Fabry-Anderson disease”, which is another name for Fabry disease. Conditions with an arrow have their own page on this site.
How LSDs are diagnosed
Most LSDs can be confirmed with blood tests. An early diagnosis matters, because several treatments work best when started early.
01
Enzyme test
A blood test, often on a dried blood spot, measures the activity of the enzyme involved. It is usually the first and most direct test.
02
Genetic test
Confirms the gene change, can help predict how the disease will behave, and allows relatives to be tested.
03
Biomarker and urine tests
Substances in the blood or urine, such as lyso-Gb1 in Gaucher disease or GAGs in MPS, support the diagnosis and help monitor treatment.
04
Carrier and prenatal testing
Relatives can find out whether they are carriers, and couples at risk can have testing in future pregnancies.
Centres of Excellence for rare diseases across India offer testing and specialist care.
Treatment for LSDs
Most LSDs cannot be cured yet, but treatment has advanced a great deal. The options depend on the condition, and early treatment usually works best.
Enzyme replacement therapy (ERT)
The missing enzyme is given by infusion, usually every one or two weeks, for life.
Available for: Gaucher, Pompe and Fabry disease, several types of MPS, Niemann-Pick types A and B, Wolman disease, alpha-mannosidosis and CLN2 Batten disease.
Substrate reduction therapy (SRT)
Tablets or capsules that reduce how much of the stored substance the body makes.
Used in: Gaucher disease type 1 and Niemann-Pick type C.
Chaperone therapy
A capsule that helps the body’s own faulty enzyme work better.
Used in: Fabry disease, for people with suitable gene changes.
Stem cell transplant (HSCT)
A bone marrow or cord blood transplant from a healthy donor, which can supply the missing enzyme.
Used in: severe MPS I, and some people with MLD, Krabbe disease or other LSDs, when done early.
Gene therapy
A one-time treatment that gives cells a working copy of the gene.
Approved for: MLD in some countries. It is being studied for many other LSDs.
Supportive care
Physiotherapy, surgery, breathing support, nutrition, pain relief, palliative care and emotional support help everyone with an LSD, whatever the condition.
Causes and inheritance
Are lysosomal storage disorders inherited?
Yes. LSDs are genetic, so they are present from conception, even when symptoms appear much later. They are not infectious, and they are not caused by anything the parents did.
Most LSDs are autosomal recessive. A child is affected when both parents pass on a faulty copy of the same gene. Parents who are carriers are usually healthy, and when both parents are carriers each pregnancy has a 1 in 4 (25%) chance of an affected child.
A few LSDs, including Fabry disease, MPS II (Hunter syndrome) and Danon disease, are X-linked: the gene is on the X chromosome. They mainly affect males, although women can also have symptoms, especially in Fabry disease.
Help for families at risk
- Genetic counselling explains the risk for each family
- Carrier testing for brothers, sisters and other relatives
- Testing during future pregnancies
- Pre-implantation genetic testing with IVF
- Marriage between close relatives raises the chance of recessive conditions
Accessing treatment in India
Getting treatment and support
Treatment for many LSDs is lifelong and expensive. These are the main sources of help for families in India.
Government support (NPRD)
The National Policy for Rare Diseases provides financial assistance of up to ₹50 lakh to eligible patients with listed rare diseases, for treatment at a designated Centre of Excellence (COE). Ask your COE whether your diagnosis and treatment plan qualify.
- Visit your nearest COE with all medical reports
- Assistance is subject to approval
- The ₹50 lakh limit may not cover lifelong treatment
Other sources of help
- State government schemes
- Corporate social responsibility (CSR) funding
- Crowdfunding through the government rare disease portal
- Charitable access programmes (limited places)
How LSDSS helps
- Connects patients with COEs and specialists
- Guides families through funding applications
- Shares updates on support programmes
- Brings patients and caregivers together
Frequently asked questions
Answers to common questions about lysosomal storage disorders.
Still have a question?
A group of more than 70 rare inherited conditions in which a missing or faulty enzyme means the lysosomes inside cells cannot break down certain fats, sugars or other substances. These substances build up and gradually damage organs and tissues.
They are caused by changes (mutations) in genes that make lysosomal enzymes, or proteins that help them work. The change is inherited from the parents. LSDs are not infectious and are not caused by lifestyle or by anything that happened during pregnancy.
Most are. A child is affected when both parents pass on a faulty copy of the same gene, and when both parents are carriers each pregnancy has a 1 in 4 chance of an affected child. A few LSDs, including Fabry disease and MPS II (Hunter syndrome), are X-linked instead.
Each LSD is rare, but together they affect about 1 in 5,000 to 1 in 8,000 babies born. In India, many patients are thought to be undiagnosed or diagnosed late.
Examples include Gaucher disease, Pompe disease, Fabry disease, the mucopolysaccharidoses (MPS) such as Hurler and Hunter syndromes, Niemann-Pick disease, Tay-Sachs and Sandhoff disease, GM1 gangliosidosis, metachromatic leukodystrophy (MLD), Krabbe disease and Batten disease.
In Indian hospital studies, Gaucher disease and MPS are the most commonly diagnosed LSDs. GM1 and GM2 gangliosidoses (including Tay-Sachs and Sandhoff disease), Pompe disease, MLD, Niemann-Pick disease and mucolipidosis are also seen regularly.
Most cannot be cured yet. However, enzyme replacement therapy, substrate reduction therapy, chaperone therapy, stem cell transplants and, for some conditions, gene therapy can slow or stabilise the disease, especially when started early.
Under the National Policy for Rare Diseases, eligible patients can get financial assistance of up to ₹50 lakh for treatment at a Centre of Excellence. LSDSS helps families find specialists, apply for support and connect with others. Register with LSDSS to get started.
Has someone in your family been diagnosed with an LSD?
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This page is for general information and awareness only. It does not replace advice from a qualified doctor. Last reviewed: November 2026.