Mucopolysaccharidoses are lysosomal storage disorders where complex sugar molecules are not properly broken down and build up in dangerous quantities in bodily tissues. As a result, there are distinctive facial features as well as anomalies in the bones, liver, eyes, and spleen, which are occasionally combined with cognitive incapacity.

When parents pass the faulty genes that produce these diseases to their children, mucopolysaccharidoses arise. When the body loses the enzymes required to digest and retain complex sugar molecules, mucopolysaccharidoses take place.


  • Hurler/Scheie syndrome (Type I)
  • Hurler disease (Type II)
  • Hunter syndrome (Type III)
  • Morquio syndrome (Type IV)
  • Maroteaux-Lamy syndrome (Type VI)
  • Sly syndrome (Type VII)


Although the symptoms of each type of mucopolysaccharidosis vary slightly, in general, small height, hairiness, and unusual growth become apparent during childhood and infancy. The big head, short nose, prominent forehead, large tongue, and lips can give the face the appearance of being heavy.

A person’s cognitive impairment may get worse over the course of their life because of certain mucopolysaccharidoses. In some forms, vision or hearing impairment may occur. It may influence the heart valves or the arteries. Inflexible finger joints are also common.


A doctor can diagnose mucopolysaccharidoses by:

  • Physical examination
  • Assessing symptoms
  • Bone X-rays
  • Prenatal screening
  • X-rays
  • Urine tests

Chorionic villus or amniocentesis sampling are two prenatal screening techniques that can be used to identify mucopolysaccharidoses before delivery.

The diagnosis is also supported by the occurrence of mucopolysaccharidosis in other family members. 

Blood cell analysis can also be used to diagnose mucopolysaccharidoses. It is possible to perform genetic testing to assess whether a couple is more likely than not to give birth to a child who has a hereditary genetic condition.

Symptoms determine what other tests are performed. Kids who have heart issues, for instance, might have an echocardiogram, while those who have hearing issues might have audiometry.


The following are the most common treatment for mucopolysaccharidoses:

  • Stem cell plant or bone marrow transplantation
  • Enzyme replacement

Some mucopolysaccharidoses are being treated with lifelong enzyme replacement treatment, which may stop the diseases from getting worse and cure some of the problems.

Certain individuals may benefit from stem cell or bone marrow transplantation. These treatments are still somewhat debatable because they may cause disability or, worst, death.

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