title: Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.
abstract: Very low serum levels of high density lipoprotein cholesterol ranging from 8.6 to 13.9 mg/dl were detected in four out of 12 sibs of a Brazilian kindred with the non-neuropathic form of Niemann-Pick disease. Hepatosplenomegaly, interstitial infiltration of the lungs, absence of neurological signs, sea-blue histiocytes in the bone marrow and liver, and high values for serum acid phosphatase (18 to 32 U/l) were common to all affected children. Leucocyte acid sphingomyelinase activity ranged from 3.6 to 6.5% of mean control values, and fibroblast activity from 9 to 13% of mean controls. The parents had low-normal levels. The relationship between these findings is unclear and deserves further investigation.
authors.affiliation: Department of Pediatrics, Federal University of Minas Gerais, Brazil.
authors.forename: M B
authors.initials: MB
authors.lastname: Viana
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
authors.forename: V H
authors.initials: VH
authors.lastname: Leite
authors.forename: M L
authors.initials: ML
authors.lastname: Barth
authors.forename: C
authors.initials: C
authors.lastname: Lekhwani
authors.forename: C M
authors.initials: CM
authors.lastname: Slade
authors.forename: A
authors.initials: A
authors.lastname: Fensom
mesh_terms: D000115:Acetylesterase / Q000032:analysis; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D008076:Cholesterol, HDL / Q000097:blood*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D009542:Niemann-Pick Diseases / Q000150:complications / Q000378:metabolism*; D012618:Sea-Blue Histiocyte Syndrome / Q000150:complications / Q000378:metabolism*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency; D001616:beta-Galactosidase / Q000032:analysis; D001617:beta-Glucosidase / Q000032:analysis
chemical_list: D008076:Cholesterol, HDL; D000115:Acetylesterase; D013108:Sphingomyelin Phosphodiesterase; D001617:beta-Glucosidase; D001616:beta-Galactosidase