Document Detail


[Niemann-Pick disease type C (subacute neurovisceral lipidosis). Problems of altered sphingomyelinase activity in the brain (author's transl)].
MedLine Citation:
PMID:  6266371     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
One fetus (20 weeks old) and two postnatal cases with Niemann-Pick disease type C (a group of unclear neurovisceral lipidoses characterized by foam cells in the bone marrow and sometimes supranuclear ophthalmoplegia) were studied with respect to the pH-dependency of brain sphingomyelinase activity. A distinct reduction of activity in the pH 5 range of the fetus was contrary to an almost normal pH profile in the postnatal cases including the sibling of the fetus. The sphingomyelinase anomaly does not seem to reflect the genetic defect, since it is paralleled by a similar anomaly of glucocerebrosidase activity. A pathologic subcellular localization of more than one lipid hydrolasis is discussed.
Authors:
K Harzer; J Peiffer
Publication Detail:
Type:  Case Reports; English Abstract; Journal Article    
Journal Detail:
Title:  Archiv für Psychiatrie und Nervenkrankheiten     Volume:  230     ISSN:  -     ISO Abbreviation:  Arch Psychiatr Nervenkr     Publication Date:  1981  
Date Detail:
Created Date:  1981-09-15     Completed Date:  1981-09-15     Revised Date:  2012-08-10    
Medline Journal Info:
Nlm Unique ID:  1270313     Medline TA:  Arch Psychiatr Nervenkr     Country:  GERMANY, WEST    
Other Details:
Languages:  ger     Pagination:  71-9     Citation Subset:  IM    
Vernacular Title:
Morbus Niemann-Pick Typ C (subakute neuroviscerale Lipidose). Zur Frage der veränderten Sphingomyelinase-Aktivität im Gehirn.
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MeSH Terms
Descriptor/Qualifier:
Axons / ultrastructure
Brain / enzymology*,  pathology
Child
Child, Preschool
Female
Humans
Hydrogen-Ion Concentration
Isoelectric Focusing
Male
Neurons / ultrastructure
Niemann-Pick Diseases / diagnosis,  enzymology*,  pathology
Phosphoric Diester Hydrolases / metabolism*
Pregnancy
Prenatal Diagnosis
Sphingomyelin Phosphodiesterase / metabolism*
Chemical
Reg. No./Substance:
EC 3.1.4.-/Phosphoric Diester Hydrolases; EC 3.1.4.12/Sphingomyelin Phosphodiesterase

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