First results of enzyme replacement therapy in two patients with mucopolysaccharidosis ih

Until the introduction of enzyme replacement therapy (ERT), the treatment of severely affected patients with mucopolysaccharidosis type I (MPS type I) who had not undergone bone marrow transplantation or who rejected the transplant was limited exclusively to palliative care concentrated on the symptoms of the disease in progression. We report the results of ERT in our two patients, a 9-year-old boy and an 8-year-old girl, in the advanced stage of the severe form of the disease (Mb. Hurler). The patients received weekly infusions of Aldurazyme (laronidase) at a dose of 100 U/kg of body weight. In order to assess their clinical condition in the course of the treatment, a detailed clinical and laboratory evaluation was performed. The ERT was most beneficial in treating sleeping disorders and sleep apnoea syndrome, in reducing the liver, spleen and kidney size and improving general physical condition and mood. The range of motion in some joints, digestive system function, vision and hearing also improved. ERT had no impact on skeletal changes and the central nervous system disease.