MPS (Mucopolysaccharidoses)

MPS is one of the 145 different rare diseases and undiagnosed conditions for which Angel’s Hands Foundations offers family support and assistance.  MPS is a group of genetic diseases caused by the body’s inability to produce specific enzymes.  Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials.

There are 15 different MPS syndromes which share some common similarities.  Affected individuals may have mental retardation, cloudy corneas, short stature, stiff joints, incontinence, speech and hearing impairment, chronic runny nose, hernia, heart disease, hyperactivity, depression, pain and a dramatically shortened life span.

MPS and related diseases are hereditary.  The occurrence of MPS and related diseases in the general population is thought to be one in 25,000 births.

Although there is currently no cure for MPS or related diseases, research is making great strides. Carrier detection, the development of replacement enzymes, and the possibility of gene therapy, are among today’s research themes and treatment options. Bone marrow transplantation has been considered successful for many, though relatively few individuals qualify for this high-risk procedure.

Make a donation today to help individuals with MPS and other rare diseases.

*Information provided by the National MPS Society

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