Substrate reduction therapy in the infantile form of Tay-Sachs disease.
case_series · Level IV
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Abstract
Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two patients with infantile TSD. SRT could not arrest the patients' neurologic deterioration. However, a significant drug concentration in CSF as well as macrocephaly prevention were observed.
Medical subject headings
- 1-Deoxynojirimycin
- Tay-Sachs Disease