title: Adult sphingomyelinase deficiency: report of 2 patients who initially presented with psychiatric disorders.
abstract: We studied 2 unrelated adult patients under neuroleptic treatment who met all phenotypic and biochemical criteria for Niemann-Pick disease type B. In addition, they had chronic psychiatric disorders and low blood levels of HDL cholesterol. The marked and persistent deficiency of acid sphingomyelinase and the disturbance of sphingomyelin metabolism in skin fibroblast subcultures ruled out a pure drug-induced lipidosis. The association of Niemann-Pick disease type B with psychiatric disorders and with low levels of HDL cholesterol could be a chance association of 2 diseases, a new phenotype of Niemann-Pick type B, or the revelation by the neuroleptic treatment of a subclinical inborn sphingomyelinase deficiency.
authors: Laboratoire de Chimie Biologique, Faculté de Médecine Saint-Antoine, Paris, France.
authors: G
authors: G
authors: Dubois
authors: J M
authors: JM
authors: Mussini
authors: M
authors: M
authors: Auclair
authors: J
authors: J
authors: Battesti
authors: J M
authors: JM
authors: Boutry
authors: J L
authors: JL
authors: Kemeny
authors: J C
authors: JC
authors: Mazière
authors: J C
authors: JC
authors: Turpin
authors: J J
authors: JJ
authors: Hauw
mesh_terms: D000328:Adult; D001992:Bronchoalveolar Lavage Fluid / Q000378:metabolism; D002908:Chronic Disease; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D008297:Male; D009542:Niemann-Pick Diseases / Q000201:enzymology* / Q000378:metabolism; D010727:Phosphoric Diester Hydrolases / Q000172:deficiency*; D011618:Psychotic Disorders / Q000201:enzymology*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency*
chemical_list: D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase