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: M B Viana, R Giugliani, V H Leite, M L Barth, C Lekhwani, C M Slade, A Fensom
• Journal: Journal of medical genetics (J Med Genet) Vol. 27 Issue 8 Pg. 499-504 (Aug 1990) ISSN: 0022-2593 [Print] England
• PMID: 2120445 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Cholesterol, HDL
• Acetylesterase
• Sphingomyelin Phosphodiesterase
• beta-Glucosidase
• beta-Galactosidase

Topics

• Acetylesterase (analysis)
• Adolescent
• Adult
• Child
• Child, Preschool
• Cholesterol, HDL (blood)
• Female
• Fibroblasts (enzymology)
• Humans
• Leukocytes (enzymology)
• Male
• Middle Aged
• Niemann-Pick Diseases (complications, metabolism)
• Sea-Blue Histiocyte Syndrome (complications, metabolism)
• Sphingomyelin Phosphodiesterase (deficiency)
• beta-Galactosidase (analysis)
• beta-Glucosidase (analysis)