Mucopolysaccharidosis Type I

Mucopolysaccharidoses (MPS) type I – a group of hereditary diseases caused by a deficiency of one of the lysosomal enzymes: arylsulfatase A (ASA), iduronate-2-sulfatase (I2S), beta-glucosidase (BGL), arylsulfatase B (ASB).

Clinical picture. The disease manifests itself in early childhood (1-2 years) and manifests as hepatosplenomegaly, hepatocerebral syndrome, optic nerve atrophy, and myotonia. In 100% of cases, severe delay in psychomotor development develops.

To clarify the diagnosis, a molecular genetic study of the gene is performed IDS by direct sequencing method. In MPS type I, mutations are detected that lead to the replacement of amino acids in the polypeptide chain of the enzyme, or deletion and duplication of nucleotides.

Differential diagnosis is carried out with other forms of MPS, as well as with hereditary diseases manifested by hepatosplenomegaly.

Treatment includes replacement therapy with drugs containing the enzyme, as well as symptomatic treatment.