Mucopolysaccharidosis (M.P.S.) is a group of metabolic disorders caused by a deficiency of specific enzymes required to break down sugar carbohydrates that contribute to the formation of bone, skin, and connective tissue.
May 15 is observed annually as International M.P.S. Awareness Day. This yearly event raises awareness of Mucopolysaccharidose (M.P.S.) Disorders. Each year, members of the MPS society strive to educate and raise awareness about the diagnosis, symptoms, and treatment of MPS. Mucopolysaccharidosis is a genetic lysosomal storage disease brought on by the inability of the organism to produce a particular enzyme. The lack of or insufficiency of the enzyme prevents cells from recycling debris, leading to the accumulation of substances in cells throughout the body. M.P.S. has over 40 inherited diseases caused by lysosome organelle dysfunction.
Mucopolysaccharidosis (M.P.S.) is a group of metabolic disorders caused by a deficiency of specific enzymes required to break down sugar carbohydrates that contribute to the formation of bone, skin, and connective tissue. Individuals with M.P.S. produce insufficient enzymes or enzymes that do not function adequately to break down these sugar chains into simpler molecules. This causes persistent cell damage and alters the physical appearance, organ function, and system functioning of the individual.
There are numerous types of M.P.S., and it is estimated that one in every 25,000 births is affected. In 1917, Dr. Charles Hunter identified M.P.S. Type II and provided the first description of the disorder. In 1919, Gertrude Hurler identified and described two cases similar to Hunter’s observation, which lead to the discovery of Hurler and Hunter Syndrome. In 1968, the diseases were considered to be identical. In the same year, the Hunter Syndrome was regarded as a milder variant of the Hurler syndrome. In 1978, Lorincz published a book distinguishing the two maladies as distinct conditions. In 1968, it was hypothesised that the disorders were caused by inadequate mucopolysaccharide breakdown.
Seven distinct clinical categories and numerous subtypes of mucopolysaccharidoses have been identified at present. Despite the fact that each case of M.P.S. is clinically unique, the majority of patients experience a period of normal development followed by a decline in physical or mental function. Individuals may exhibit cognitive deficits, developmental delays, or severe behavioural issues, depending on their M.P.S. type. Numerous individuals experience hearing loss, neurosensory impairment, or both. Unfortunately, there is no cure for these disorders; therefore, treatment focuses on enhancing the quality of life.
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M.P.S. is a genetic disorder that is inherited.
The severity of M.P.S. symptoms varies from person to person.
M.P.S. VII, also known as cunning syndrome, is the rarest form of M.P.S.
Mucopolysaccharidosis in the urine can be utilised to diagnose M.P.S.
M.P.S. is treated with enzyme replacement therapy to alleviate non-neurological discomfort and symptoms.
| Year | Date | Day |
|---|---|---|
| 2023 | May 15 | Monday |
| 2024 | May 15 | Wednesday |
| 2025 | May 15 | Thursday |
| 2026 | May 15 | Friday |
| 2027 | May 15 | Saturday |
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