Lysosomal Disease

It’s Time You Know

Generally, individual lysosomal storage diseases (LSDs) have an incidence of less than 1 per 100,000 people. However, this group of more than 50 rare inherited metabolic disorders that result from defects in lysosomal function occurs in about 1 per 7,500 people. Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or mucopolysaccharides. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II).

The lysosome is commonly referred to as the cell’s recycling center because it processes unwanted material into substances that the cell can utilize. Lysosomes break down this unwanted matter via enzymes, highly specialized proteins essential for survival. Lysosomal disorders are triggered when a particular enzyme exists in too small an amount or is missing altogether. When this happens, substances accumulate in the cell. In other words, when the lysosome doesn’t function normally, excess products destined for breakdown and recycling are stored in the cell.

The signs and symptoms of lysosomal storage disease vary, depending on the particular disorder and other variables like the age of onset, and can be mild to severe. They can include developmental delay, movement disorders, seizures, dementia, deafness and/or blindness. Some people with Lysosomal storage disease have enlarged livers (hepatomegaly) and enlarged spleens (splenomegaly), pulmonary and cardiac problems, and bones that grow abnormally. Look below for some examples of lysosomal storage diseases:


Tay-Sachs disease (TSD, aka GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis): – National Tay-Sachs & Allied Diseases Association
1 in 320,000 babies born (1 in 30 Ashkenazi Jews is a carrier)
The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the brain. Gangliosides are lipids, components of cellular membranes, and the ganglioside GM2, implicated in Tay-Sachs disease, is especially common in the nervous tissue of the brain.

Gaucher disease (Glycogen Storage Disease II; aka Acid Maltase Deficiancy) : – Children’s Gaucher Disease Research Fund – National Gaucher Foundation

Types II and III each affect 1 in 100,000 babies
It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as acid ß-glucosidase), leading to an accumulation of its substrate, the fatty substance glucocerebroside (also known as glucosylceramide). Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the sclera. Persons affected most seriously may also be more susceptible to infection.

Pompe disease: – Acid Maltase Deficiency Association
1 in 40,000 babies born
It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA).  Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy.  But in Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme.  Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.  Researchers have identified up to 70 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity.

Alec Baldwin – Genetics 101 Cartoon

Videos Courtesy of Hide & Seek Foundation for Lysosomal Disease Research
YouTube Channel:

In local news:
Hide and Seek Boutique Grand Opening – 203 Covina Ave., Long Beach, CA
On April 15, 2009, the Hide and Seek Foundation opened a second-hand furniture store in beautiful Belmont Shore. With 100 percent of the proceeds going toward Hide and Seek Foundation, the organization hopes that their selection of quality used home furnishings at affordable prices will raise disease awareness while helping to beautify the community. “Everyone deserves a beautiful home environment,” Hide and Seek Boutique founder Stephanie Lyn says. “The condition of my home environment was crucial for my sanity when dealing with my son Tristen’s diagnosis and when setting up and dealing with the creation of the Hide and Seek foundation. I just want to spread that idea throughout the community while educating the public about the illness.” Now the foundation founder, together with a committed group of volunteers have taken this simple concept and turned it into a reality. The grand opening was beautifully staged with artwork by local artists, complimentary juice and snacks and acoustic music performed by local musicians.

~ by marbleroad on April 21, 2009.

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