One of the most interesting functions of the human body is the way it acts as a self-cleaning oven. One example of this concept is the process by which lysosomes act as the “recycling center” of our body’s cells, using their enzymes to break down and filter waste products and unwanted compounds.
What Are Lysosomal Storage Disorders (LSDs)?
If one or more of the specific enzymes that keep this filtration process running do not work or are missing, cell waste is free to build up and pose the threat of causing illnesses known as lysosomal disorders (LSDs). LSDs are inherited hereditarily through an X-linked gene, and there are more than 40 different known types of the disorder.
What Are the Symptoms?
Because LSDs are inherited disorders, many individuals suffering from them will exhibit symptoms in early childhood. These include a purplish-blue skin rash, cloudy eyes, unusual facial features such as an enlarged tongue, muscle weakness or gradual loss in motor skills, short stature and bone abnormalities, development problems, and an enlarged belly.
Are there Treatment Options?
LSD treatment strategies are twofold. Medications aimed at suppressing symptoms are usually prescribed at first, followed by replacing the defective or missing enzymes with a synthetic substitute. The drawback to this secondary treatment is that because LSDs are so rare, replacement enzymes for all variations of the disease have not been developed due to cost. Treatment using replacement therapies can cost up to $100,000 a year.
If you or a family member is affected by a LSD, it always helps to consider seeking emotional support as well. Seek out local support groups in your area or ask your doctor for more information about these opportunities.
Sources:
CVS/Pharmacy Health Resources – Lysosomal Disorders: http://www.cvshealthresources.com/topic/lysosomaldisorders#s15
Lysosomal Learning – About Lysosomal Disorders: http://www.lysosomallearning.com/patient/about/lsd_pt_abt_living.asp
Global Organisation for Lysosomal Disease (GOLD) – The Lysosome: http://www.goldinfo.org/education.aspx