title: Substrate reduction therapy in the infantile form of Tay-Sachs disease.
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.
authors.affiliation: Unità di Malattie Metaboliche, I.R.C.C.S. Burlo Garofolo, Trieste, Italy. bembi@burlo.trieste.it
authors.forename: B
authors.initials: B
authors.lastname: Bembi
authors.forename: F
authors.initials: F
authors.lastname: Marchetti
authors.forename: V I
authors.initials: VI
authors.lastname: Guerci
authors.forename: G
authors.initials: G
authors.lastname: Ciana
authors.forename: R
authors.initials: R
authors.lastname: Addobbati
authors.forename: D
authors.initials: D
authors.lastname: Grasso
authors.forename: R
authors.initials: R
authors.lastname: Barone
authors.forename: R
authors.initials: R
authors.lastname: Cariati
authors.forename: L
authors.initials: L
authors.lastname: Fernandez-Guillen
authors.forename: T
authors.initials: T
authors.lastname: Butters
authors.forename: M G
authors.initials: MG
authors.lastname: Pittis
mesh_terms: D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives* / Q000627:therapeutic use; D019465:Craniofacial Abnormalities / Q000517:prevention & control; D004569:Electroencephalography; D016057:Evoked Potentials, Auditory, Brain Stem; D005074:Evoked Potentials, Visual; D005260:Female; D006801:Humans; D007223:Infant; D009410:Nerve Degeneration / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D013661:Tay-Sachs Disease / Q000134:cerebrospinal fluid / Q000150:complications / Q000188:drug therapy* / Q000503:physiopathology*
chemical_list: D017485:1-Deoxynojirimycin; C059896:miglustat