Mucopolysaccharidosis (MPS) Disease

Mucopolysaccharidosis (MPS) Disease

Mucopolysaccharidosis (MPS)genetics, arising as a result of a deficiency or dysfunction of lysosomal enzymes that remove waste from cells by breaking down glycosaminoglycans (GAG), lysosomal depot is a group of diseases. GAGs (aka mucopolysaccharides) are found in structures such as bone, cartilage, connective tissue, and skin; in MPS, these molecules accumulate inside the cell, leading to damage to organs. MPS is rare in the world; for example, according to one source, MPS can occur in about one in every 100,000 live births. The disease usually manifests itself in childhood and progresses over time. clinically rough facial contours, short stature, thick lip-tongue, intensive hair growth, stiffened finger joints, Curvature of the spine, cardiovascular problems, hearing and vision loss Common findings such as can be seen.

Causes of MPS Disease

Mucopolysaccharidoses are hereditary metabolic diseases. Each type of MPS is caused by mutations in the gene of a different enzyme involved in GAG destruction. For example, in MPS Type I (Hurler, Scheie), Type II (Hunter) or Type III (Sanfilippo), a specific lysosomal enzyme is missing, and the genetic defect of this enzyme is passed down from generation to child. The vast majority of MPS types autosomal recessive is transient; that is, in order for the disease to occur in the child, defective genes must be present in genes from both the mother and the father. The only exception Hunter syndrome (MPS II)'dur; this type shows recessive transition dependent on the X chromosome. Since the mutant gene in Hunter syndrome is only present on the X chromosome, the disease usually affects mother to son.

Symptoms and Course

Symptoms of MPS vary according to type, but are usually noticeable in childhood and are progressive. In the early period rough face look (wide forehead, short nose, thick lip-tongue) and short stature are the most obvious findings. In addition to this hardening in the joints (especially on the fingers), Curvature of the spine, pinky finger, deformities of the musculoskeletal system occurs frequently. Systemic involvement such as corneal clouding of the eyes (especially in MPS I, IV, VI), hearing loss due to middle ear infections, respiratory problems due to enlarged tonsils and glandular flesh, defects in the heart valves, enlargement of the liver and spleen (hepatosplenomegaly) are also typical. Intellectual developmental retardation and behavior problems also occur in some types of MPS. For example, in heavy Hurler (MPS I) and Hunter (MPS II) forms, mental decline is observed, while in types such as Morquio (MPS IV) and Maroteaux—Lamy (MPS VI), intelligence is usually preserved. In general cruising is slow; symptoms worsen over time. If not diagnosed and treated early, complications such as muscle weakness, gait disturbance, joint deformities, hearing/vision loss increase.

Types of MPS

MPS are divided into several types. The main types and characteristics of MPS are summarized as follows:

• MPS Type I (Hurler/Scheie syndrome): It happens with a deficiency of the enzyme lysosomal alpha-L-iduronidase. Heavy form (The Hurler), begins in infancy; mental decline, corneal clouding, heart and joint problems are observed. Light form (Scheie), begins at a later age, and intelligence is usually preserved.
  
  
• MPS Type II (Hunter syndrome): It occurs with a deficiency of iduronate sulfatase. It is X-linked transitive; it affects only males. Symptoms are similar to MPS I, but there is no corneal opacity. In mild form, intelligence can remain normal, while in severe form intellectual retardation develops.
  
  
• MPS Type III (Sanfilippo syndrome): It is due to the deficiency of one of the enzymes responsible for the breakdown of heparan sulfate. Neurological symptoms are in the foreground, with severe learning difficulties, hyperactivity and mental decline. Life expectancy usually ends in adolescence.
  
  
• MPS Type IV (Morquio syndrome): It is formed by a lack of enzymes that ensure the breakdown of keratan sulfate. Severe bone and spinal deformities (hump, shortened arms-legs) are pronounced. Intelligence is usually normal.
  
  
• MPS Type VI (Maroteaux—Lamy syndrome): There is a deficiency of the enzyme arylamidase B. Symptoms are similar to MPS I but no intellectual decline; intelligence may remain normal.
  
  
• MPS Type VII (Sly syndrome): It is characterized by a deficiency of beta-glucuronidase. Symptoms are similar to MPS I and their severity can vary from person to person. Hydrops before childbirth can lead to phthalosis (excessive accumulation of body water).
  
  
• MPS Type IX (Natowicz syndrome): It is a very rare form. The enzyme hyaluronidase is missing. Soft tissue masses, facial shape disorders and short stature appear around the joints; intelligence is normal.
  
  

Diagnostic Methods

The diagnosis of MPS is doubted by the patient's clinical findings and family history. For an accurate diagnosis, laboratory tests are resorted to. In the first stage urine glycosaminoglycan analysis The presence of abnormally high GAG is investigated with. If an increase in GAG is detected in the urine, the corresponding lysosomal enzyme activity measurement is done. For example, if the enzyme activity measured in blood or skin cells is normal, MPS is ruled out; if a deficiency is found, the diagnosis is confirmed. DNA-based genetic testingWith s, a definitive diagnosis can be made by detecting the mutation of the gene encoding the missing enzyme.

In addition to these, imaging and other examinations support the diagnosis. Characteristic deformities can be seen on x-rays of the spine and skeleton. Specialist evaluations such as cardiac ecography, hearing tests, eye examinations are required. Prenatal diagnosis can also be made if there is a family history of MPS; genetic analysis is possible with amniocentesis or chorionic villus sampling. In summary, the diagnosis of MPS is confirmed by symptoms and examination findings, as well as biochemical and genetic tests.

Treatment and Follow-up Process

For MPSs a definitive cure does not yet exist, but treatments are available that alleviate the symptoms and slow the progression of the disease. One of the most important methods Enzyme Replacement Therapy (ERT)is. The enzyme that is missing is replaced by weekly intravenous infusions. For example, drugs such as laronidase for MPS I, idursulphase for MPS II, galsulphase for MPS VI are used. ERT can improve lung function, joint mobility, and quality of life by reducing accumulation caused by enzyme deficiency.

In some types of MPS hematopoietic stem cell transplantation (bone marrow transplant) is also applied. Transplantation done at an early stage can delay nervous system damage, especially in severe cases of MPS I. But the transplant itself carries serious risks and is not suitable for every patient.

Apart from these supportive treatment and symptomatic approaches are important. Versatile care is required, such as orthopedic surgery (correction of spinal and hip deformities), repair of heart valve diseases, corneal transplantation, respiratory therapies, use of hearing aids, physiotherapy and occupational therapy. The aim is to maintain healthy growth and development with nutrition, dialogue therapy and rehabilitation support. So that all these treatments can be applied simultaneously a multidisciplinary team Follow-up is carried out with (pediatric metabolic disease specialist, geneticist, orthopedist, cardiology, physical therapy, ophthalmologist, otolaryngologists, etc.).

Early diagnosis and treatment in MPS ensures the delay of complications. In cases treated early, problems such as loss of muscle strength, impaired gait, joint deformities, severe pain appear later or decrease in severity. The goal of long-term follow-up is to maximize the child's quality of life, minimize complications, and provide the family with the support they need.

Living with the Disease: A Guide for Families

Life with MPS can be a long and challenging process. Families should not neglect their own health and psychosocial needs, both when undertaking the care of the child. Long-term care burden can negatively affect the quality of life of families; for example, in one study it was shown that the quality of life decreases as the burden of care increases on the parents of children with MPS. For this reason, families should participate in support groups, cooperate with the close environment and health team, and, if necessary, receive psychological support. In Turkey MPS Associations (e.g. MPS LH Association) and international communities provide information, resources and solidarity for families.

Practical recommendations for families include: Regularly attending the patient's treatment program and routine doctor check-ups; creating a safe living space at home; supporting the child in physiotherapy and activities of daily living; taking advantage of school administration and special education resources for school compliance; sharing experience and knowledge by communicating with families with other MPS. In addition, one should be prepared for new needs that may arise as the disease progresses, and take advantage of social services and health system facilities for home care and medical device requirements.

In summary, life with MPS requires a dynamic and multifaceted approach. Families receive support from solidarity groups and expert teams to ensure that the child grows and develops in the best possible way. It should be remembered that the patient's family is also part of the care process, and they also need rest, support.