title: [Study of thesaurismosis induced by perhexiline maleate. Confirmation of experimental data].
abstract: Perhexiline maleate is an amphiphilic molecule. Along with many other drugs it is responsible for experimental and, in some instances, clinical lipidoses. Sphingomyelinase deficiency has been evidenced in cell cultures incubated with perhexiline maleate. We describe the occurrence of a similar defect in a patient. The disturbances in the phospholipid turnover which are responsible for the thesaurismosis may originate in the sphingomyelinase deficiency.
mesh_terms: D002524:Cerebellar Ataxia / Q000139:chemically induced; D005260:Female; D006801:Humans; D008064:Lipidoses / Q000139:chemically induced*; D008875:Middle Aged; D009468:Neuromuscular Diseases / Q000139:chemically induced / Q000473:pathology; D010480:Perhexiline / Q000009:adverse effects* / Q000031:analogs & derivatives; D010525:Peripheral Nerves / Q000473:pathology / Q000648:ultrastructure; D010523:Peripheral Nervous System Diseases / Q000139:chemically induced*; D010880:Piperidines / Q000009:adverse effects*; D012583:Schwann Cells / Q000648:ultrastructure
chemical_list: D010880:Piperidines; C023470:perhexiline maleate; D010480:Perhexiline
vernacular_title: Etude d'une thésaurismose induite par le maléate de perhexiline. Confirmation des données expérimentales.