Mucopolysaccharidosis: Symptoms and Treatment

Mucopolysaccharidosis — a genetic disease associated with the violation of the production of certain enzymes by the body, which contributes to the development of severe physical and neurological symptoms. Hereditary pathologies are always very serious, as in most cases they do not lend themselves to complete cure. These pathologies include mucopolysaccharidosis, which is a fairly large group of diseases that develop because of the disruption of the enzymatic catalysis of glycosaminoglycans in lysosomes.

This pathology is inherited by autosomal recessive type — this means that a patient with such a pathology as a mucopolysaccharidosis child can appear in absolutely healthy parents, each of whom is a carrier of a pathological gene. In this case, pathology for this type of inheritance affects both male and female. The presence of a pathological gene in the parents’ genotype is the main cause of pathology development — predisposing factors do not exist in this case, since genetic diseases are not associated with any environmental conditions.


There are the main symptoms of this disease, which include:

  • severe deformations of the skeleton;
  • Deformities of the bones of the skull, of the auricles, curvature of the teeth
  • Coarsening of facial features
  • growth retardation
  • mental retardation is often observed
  • Decrease or total limitation of joint mobility
  • frequent development of hernias (of different locations)
  • decreased hearing and vision
  • damage to the internal organs and a predisposition to frequent infectious diseases

Depending on how pronounced are physical and psychological disorders, there are seven types of such a disease, as mucopolysaccharidosis. In this case, the main types that occur more often than others are of four types.

Type one — Hurler’s disease. This pathology is the most rapidly progressive, flowing with severe symptoms. A characteristic symptom for her is the deformation of the skull with the development of gross facial features. By the age of two, the clinical picture is already fully expressed and is represented by serious deformations of the skeleton, violation of the heart, liver and spleen, and the detection of multiple hernias. The prognosis of the disease is extremely unfavorable.

The second type is Hunter’s disease. In this case, the appearance of hearing loss and frequent development of infectious diseases (pneumonia, tracheitis, bronchitis). Unlike the previous type, mostly boys suffer from this pathology, and the disease proceeds slowly without causing serious changes in the skeleton.

There are two variants of the current of this type of mucopolysaccharidosis — favorable and unfavorable. In the first case, patients with this diagnosis can live up to 30 years, in the second — die in adolescence. Usually the cause of death is the complication of infectious diseases.

Type three — Sanfilippo syndrome. Characterized pathology of a child’s severe mental retardation. And in the first years of life the disease does not manifest itself (can only be noted clumsy gait). But in 3-5 years the disease is rapidly progressing, and is characterized by incontinence of feces and urine, apathy, growth retardation and development of contractures.

The fourth type is Morkio’s syndrome. In such a disease, up to 3 years, children develop normally, but then they begin to lag behind in development — growth slows, scoliosis occurs, valgus deformity of the feet is noted, Thickens the skin. Typical signs of this pathology are such symptoms: decreased vision, deafness and the development of hernias. However, the child’s mental development does not suffer. Death usually comes as a result of heart failure due to infectious pathologies carried by the child.

There are other forms of mucopolysaccharidosis. The names of these pathologies are related to the names of those doctors and scientists who first described this or that disease. These pathologies are less common than the above-described 4 types of mucopolysaccharidosis, but nevertheless require detailed acquaintance with them.

Sleeve Syndrome is one of the most favorable variants of mucopolysaccharidosis. With this pathology, the symptoms do not appear in early childhood, but only somewhere at the age of 6 years. The complete picture of the disease is formed by the time of puberty of the child, while all changes are not very pronounced.

Maroto-Lamy Syndrome has such typical features as a lag in growth and coarsening of facial features. This pathology occurs either in light or in severe form.

When talking about Sloi syndrome , you need to be very confident in this diagnosis, since the pathology resembles the Sanfilippo syndrome, and only through a biochemical study differential diagnosis is carried out.

Syne-di-Ferrante for its clinical manifestations is similar to Morkio’s disease. The difference is the appearance of psychomotor and intellectual backwardness in development.

Treatment features

Diagnosis of a variety of pathology is carried out through X-ray studies, biochemical studies and other methods that allow us to establish physical and psychological disorders. Since mucopolysaccharidosis is a genetic pathology, there is no cure for it and the prognosis of the disease is almost always unfavorable — the question is only how old the patient can survive.

At the same time, correction of disorders caused by pathology is obligatory, which makes it possible to alleviate the condition of a sick person and prolong his life. That’s why after the diagnosis, the child should be observed in such specialists as:

  1. orthopedist
  2. Surgeon
  3. The otolaryngologist
  4. cardiologist
  5. Neuropathologist
  6. Ophthalmologist
  7. Pediatrician

Each of these specialists is able to carry out symptomatic treatment, for example, an orthopedist corrects the disorders that have arisen in the locomotor apparatus, assigning the child physiotherapy procedures such as massage, exercise therapy, etc. Surgical treatment is aimed at the removal of hernias, if any develop A child with a disease such as mucopolysaccharidosis. The task of the otolaryngologist is to treat chronic infections that often occur in this disease, to control the child’s hearing.

The cardiologist is engaged in the treatment of cardiovascular pathologies that often accompany this disease, and the neuropathologist monitors the development of neurological disorders, possibly slowing their course.

An ophthalmologist is a doctor who follows the patient’s vision. Well, the task of the pediatrician is to control the general condition and treatment of infectious diseases, to which children with this pathology are many times more susceptible than those who do not suffer from it.

Of course, since mucopolysaccharidosis is a genetic disease, a sick child should be observed in a geneticist who can monitor the course of the disease and correct the severity of the symptoms.

In any case, to cure the disease, even if it is detected at an early stage, it is impossible, therefore the parents of children who were diagnosed with this disease should have the patience and strength to facilitate the child’s short life and make it as comfortable as possible.