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)
|