Lysosomal storage disorders
What is lysosomal storage disorders
Lysosomal storage disorders are a group of more than 50 rare diseases.1 They affect the lysosome -- a structure in your cells that breaks down substances such as proteins, carbohydrates, and old cell parts so the body can recycle them. People with these disorders are missing 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, they build up in cells and become toxic. They can damage cells and organs in the body.
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1. https://www.webmd.com/children/what-are-lysosomal-storage-disorders#1, accessed 5/4/18
Common lysosomal storage disorders subtypes
- Gaucher disease
- Pompe disease
- Hunter syndrome (MPS II)
- Fabry Disease
- Mucopolysaccharidosis I (MPS I) disease
- Mucopolysaccharidosis type IV (MPS IV) disease
- Mucopolysaccharidosis type VI (MPS VI) disease
- Mucopolysaccharidosis type VII (MPS VII) disease
- Lysosomal acid lipase deficiency (LAL-D)
Gaucher disease is an inherited disease caused by a buildup of glucocerebroside, a fatty substance, in blood, organs, and bones. Those with Gaucher disease do not have enough of the enzyme glucocerebrosidase (GCase) which is used by the body to break down the fatty chemical glucocerebroside. As a result, blood, organs, and bone fill up with fatty substances. The fatty substances usually affect the spleen and liver which causes these organs to grow larger and can affect how they work. The buildup of fat in the bones can weaken the bone and increase the risk of fractures.2
Gaucher disease is one of the most common fatty storage diseases. Gaucher disease can affect anyone. It is estimated that this disease occurs in approximately 1 in 40,000 births worldwide. However, Gaucher disease is more common in the Eastern Europe population, specifically Jews, occurring in approximately 1 out of 450 people.2
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
Researchers have described three types of pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.3
Pompe disease affects about 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups.3
Hunter syndrome (MPS II)
Hunter syndrome, also called mucopolysaccharidosis II or MPS II, is a rare disease that's passed on in families. It usually affects only boys. Their bodies can't break down a kind of sugar that builds bones, skin, tendons, and other tissue. Those sugars build up in their cells and damage many parts of the body, including the brain. Exactly what happens is different for every person.4
MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males.4
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.5
Fabry disease affects an estimated 1 in 40,000 to 60,000 males. This disorder also occurs in females, although the prevalence is unknown. Milder, late-onset forms of the disorder are probably more common than the classic, severe form.5
Mucopolysaccharidosis I (MPS I) disease
Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Seven distinct forms and numerous subtypes of mucopolysaccharidosis have been identified. Associated signs and symptoms and the severity of the condition vary significantly by form. In general, most affected people appear healthy at birth and experience a period of normal development, followed by a decline in physical and/or mental function. As the condition progresses, it may affect appearance; physical abilities; organ and system functioning; and, in most cases, cognitive development. The underlying genetic cause varies by form. Most cases are inherited in an autosomal dominant manner, although one specific form (Type II) follows an X-linked pattern of inheritance. Treatment is based on the signs and symptoms present in each person.6
Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes. This causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. This leads to the medical problems seen in the condition.
MPS I was once divided into three separate syndromes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, listed from most to least severe. Because no biochemical differences have been identified and the clinical findings overlap, the condition is now divided into two subtypes, severe MPS I and attenuated MPS I. People with severe MPS I typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. Although there is no cure for MPS I, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition.7
Mucopolysaccharidosis I (MPS I) is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
- 25% (1 in 4) chance to be affected
- 50% (1 in 2) chance to be an unaffected carrier like each parent
- 25% chance to be unaffected and not be a carrier
If you are concerned about your risks to be a carrier of MPS I, we would recommend you consult with a genetics specialist, such as a geneticist or a genetic counselor. See our page on how to find a genetics clinic to identify a local genetics specialist.7
Mucopolysaccharidosis type IV (MPS IV) disease
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals.8
The exact prevalence of MPS IV is unknown, although it is estimated to occur in 1 in 200,000 to 300,000 individuals.8
Mucopolysaccharidosis type VI (MPS VI) disease
Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.9
The exact incidence of MPS VI is unknown, although it is estimated to occur in 1 in 250,000 to 600,000 newborns.9
Mucopolysaccharidosis type VII (MPS VII) disease
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals.10
The exact incidence of MPS VII is unknown, although it is estimated to occur in 1 in 250,000 newborns. It is one of the rarest types of mucopolysaccharidosis.10
Lysosomal acid lipase deficiency (LAL-D)
Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of fats (lipids) accumulate in cells and tissues throughout the body, which typically causes liver disease. There are two forms of the condition. The most severe and rarest form begins in infancy. The less severe form can begin from childhood to late adulthood.11
Lysosomal acid lipase deficiency is estimated to occur in 1 in 40,000 to 300,000 individuals, varying by population. The later-onset form is more common than the early-onset form.11
Accredo, a specialty pharmacy for lysomal storage disorders, dispenses specialty and non-specialty medications including (but not limited to):
|Cerdelga® (eliglustat)||Sanofi Genzyme|
|Cerezyme® (imiglucerase for injection)||Sanofi Genzyme|
|Elelyso® (taliglucerase alfa)||Pfizer|
|Vpriv® (velaglucerase alfa)||Shire|
|Zavesca® (miglustat)||Generic(s) Available||Actelion Pharmaceuticals US, Inc/ANI Pharmaceuticals|
|Lumizyme® (alglucosidase alfa)||Sanofi Genzyme|
|Nexviazyme™ (avalglucosidase alfa-ngpt)||Sanofi Genzyme|
Hunter syndrome - MPS II
|Fabrazyme® (agalsidase beta)||Sanofi Genzyme|
|Galafold™ (migalastat)||Amicus Therapeutics, Inc.|
Accredo also dispenses traditional chemotherapy medications as well as supportive care medications ordered by your prescriber that are not listed above.
Financing Your Care
Financial assistance coordination may be available to help with your medication costs, including manufacturer and community programs. Accredo representatives are available to help find a program that may work for you.
Community financial resources
- National Organization for Rare Disorders | 800-999-6673
- Patient Access Network Foundation | 866-316-7623
- The Assistance Fund | 855-845-3663
Life-saving specialty medication can be expensive. Learn how the Accredo teams help individuals find ways to afford the medication they need to survive in this video.
Meet the Team
Accredo’s Lysosomal storage disorders "LSD" care team is dedicated to serving you and we understand the complexity of your condition. Our specialty-trained clinicians are available 24 hours a day, seven days a week, to answer any questions.