engleski

Enzyme replacement therapy in two patients with MPS I

Mucopolysaccharydosis type I (MPS I) is a lysosomal storage disease with accumulation of glycosaminoglycanes - dermatan and heparan sulphate due to a alpha-L-iduronidase deficiency. Since March 2003 we have treated two patients - a 9 year-old boy and and an 8 year-old girl suffering from MPS I with rh alpha-L-iduronidase. Before the beginning of the enzyme replacement therapy, both patients had an advanced stage of the disease with reduced visual acuity due to diminished corneal transparency, increased eye pressure, impaired cardiac function (NYHA II). His mental functioning was at the level of moderate mental retardation, while the girl was severely mentally retarded. Rh alpha-L-iduronidase was administrated weekly, at the dosage of 100 IU/kg. During the therapy, neiter side effects nor allergic reactions were observed. The boy showed and improved physical condition, increased general mobility, improved respiratory function, and reduced hearing impairment. The sleep-apnea syndrome disappeared, as well as the other signs of sleep disorder. No influence on the mental condition was noted. The leukocyte alpha-L-iduronidase level was adequate, while the urinary glycosaminolgycans reached normal concentrations.

enzyme replacement therapy; ERT; MPS I; Morbus Hurler

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