Mucopolysaccharidosis Awareness Day

Mucopolysaccharidosis Day is celebrated on May 15 with the aim of raising awareness of lysosomal diseases such as Mucopolysaccharidosis and related syndromes.

Mucopolysaccharidoses are rare lysosomal storage disorders caused by a genetic abnormality. People living with this rare disease lack the ability to produce an enzyme that degrades the so-called mucopolysaccharides (complex carbohydrates) to simpler molecules, which are lysosomal storage disorders caused by a rare genetic abnormality.

Characteristic symptoms are hyperactivity, sleep disorders, loss of speech in some cases, physical deformities and in some cases, mental retardation and dementia. The life expectancy of children with these syndromes usually does not reach puberty.

The entities of the associative movement work daily to promote scientific research, to advise and support and provide information, to promote knowledge and raise awareness among the population, as well as to promote prevention, specifically those measures that avoid genetic transmission.