Mucopolysaccharidosis Type IV

Mucopolysaccharidosis type IV

Mucopolysaccharidosis type IV (syn.: Morquio disease, Morquio syndrome) is a hereditary disease caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase. This leads to the accumulation of glycosaminoglycans in the tissues of the body, in particular keratan sulfate and chondroitin-6-sulfate.

The clinical manifestations of Morquio disease are varied. Characterized by skeletal deformities, short stature, clouding of the cornea, and damage to the cardiovascular system. Most patients have neurological symptoms - mental retardation, seizures, compressive myelopathy.

The diagnosis is established on the basis of the clinical picture, data from biochemical and molecular genetic studies.

Treatment of Morquio disease is symptomatic and supportive. Methods of enzyme replacement therapy are currently being developed. The prognosis depends on the severity of the course; in severe forms, death can occur in childhood or adolescence.

Mucopolysaccharide type IV (MPS IV) is a rare hereditary disease manifested by dysfunction of lysosomal enzymes. The main cause of this disorder is a deficiency of the enzyme iduronate-2-dehydrogenase. This leads to the accumulation and accumulation of a certain type of oligonucleotides and polygonuleptides, which can cause various biological manifestations.

MPS IV can range in severity from mild to severe. Symptoms depend on the type and severity of the disease and may also vary among different age groups. In infants, MPS IV manifests itself as an infant form of the disease - delayed psychomotor development, enlargement of the liver and spleen, and in adults as an adult form of the disease. The adult form may include epileptic seizures, nervous disorders and other neurological disorders. Treatment may include drug therapy and dietary changes, and for severe cases, bone marrow or hematopoietic stem cell transplantation is an option.

It is important to note that special tests are required to diagnose MPS IV, including biochemical blood tests and genetic testing. It is necessary to conduct a full examination to determine the form and extent of the disease in order to prescribe effective treatment. Otherwise, the patient may face complications associated with this disease. In order to accurately determine the severity of the disease and carry out effective treatment, it is better to contact a specialist who specializes in the treatment of MPS.