The lipidoses: morphologic changes in the nervous system in Gaucher's disease, GM2 gangliosidoses and Niemann-Pick disease.
The present paper presents, in tabular form, most of the inborn errors of lipid metabolism (exclusive of the hyperlipoproteinemias); some may, with further studies, be removed from this category. Three of the lipidoses and their subtypes which are associated with severe neurologic disorders are discussed, i.e., infantile Gaucher's disease, Niemann-Pick disease and the GM2 gangliosidoses. Particular emphasis is placed on the importance of careful biochemical and enzymatic studies of either surgical or autopsy material of any patient suspected of having one of the lipidoses. Only by such studies can an exact diagnosis of virtually all of these inborn errors of lipid metabolism be established. Such a diagnosis is important, since in many instances an antenatal diagnosis is possible by demonstration of the enzymatic defect in cell grown in tissue culture from the amniotic fluid.
D001921:Brain / Q000473:pathology; D005733:Gangliosidoses / Q000201:enzymology / Q000473:pathology; D005776:Gaucher Disease / Q000201:enzymology / Q000473:pathology*; D005962:Glucosylceramidase / Q000172:deficiency; D006596:Hexosaminidases / Q000172:deficiency; D006801:Humans; D007585:Jews; D008064:Lipidoses / Q000175:diagnosis / Q000201:enzymology / Q000453:epidemiology / Q000473:pathology*; D008099:Liver / Q000473:pathology; D009420:Nervous System / Q000473:pathology*; D009474:Neurons / Q000473:pathology; D009542:Niemann-Pick Diseases / Q000175:diagnosis / Q000201:enzymology / Q000473:pathology*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency; D013154:Spleen / Q000473:pathology
D013108:Sphingomyelin Phosphodiesterase; D006596:Hexosaminidases; D005962:Glucosylceramidase