[Differential diagnosis of congenital lipidoses by lipid analyses of body fluids, biopsy and autopsy tissue].
1. Presentation of the commomly used procedures for the extraction and separation of total lipids, glycolipids and phosholipids from fresh and formalin-fixed organs tissues (brain, liver, spleen, kidney) as well as from serum, CSF and urine. II. Description of the qualitative and quantitative analysis of individual lipid fractions (glycolipids, gangliosides, phospholipids, neutral lipids) by thin-layer chromatograhy and photodensitometry. III. Results of investigations performed on biopsy material, autopsy material, serum and urine in the following diseases: 1. Infantile, juvenile and adult Gaucher's disease: accumulation of glucocerebroside in liver and spleen. 2. Infantile and adult Niemann-Pick disease: accumulation of sphingomyelin in liver, spleen, kidney and lung. 3. Fabry's disease: increased urinary excretion of trihexosyl-ceramide and dihexosyl-ceramide. 4. Infantile and adult metachromatic leukodystrophy: accumulation of sulfatides in the central and peripheral nervous system and kidney, increased urinary excretion of sulfatides. 5. Austin's variant of metachromatic leukodystrophy: besides an increase of sulfatides in the white matter of brain accumulation of glycolipids in the cerebral cortex. 6. Tay-Sachs disease (GM2-gangliosidosis): cerebral accumulation of GM2-ganglioside and trihexosylceramide (enzyme variant B), additional visceral accumulation (liver, spleen, kidney) of tetrahexosyl-ceramide = globoside (enzyme variant 0). 7. Infantile generalized GM1-gangliosidosis: cerebral (and visceral) accumulation of GM1-ganglioside and tetrahexosyl-ceramide. 8. Late infantile GM1-gangliosidosis: Cerebral accumulation of GM1-ganlioside and tetrahexosylceramide. 9. GM3-gangliosidosis (lactosyl-ceramidosis): neuronal accumulation of lactosyl-ceramide,  GM2-ganglioside and GM3-ganglioside. 10. Refsum's disease: demonstration of phytanic acid esters of cholesterol in serum.
D001344:Autopsy; D001706:Biopsy; D002855:Chromatography, Thin Layer; D003720:Densitometry; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis; D005733:Gangliosidoses / Q000175:diagnosis; D005776:Gaucher Disease / Q000175:diagnosis; D006017:Glycolipids / Q000032:analysis; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis; D008064:Lipidoses / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology; D008055:Lipids / Q000032:analysis*; D009542:Niemann-Pick Diseases / Q000175:diagnosis; D010743:Phospholipids / Q000032:analysis; D012035:Refsum Disease / Q000175:diagnosis
D006017:Glycolipids; D008055:Lipids; D010743:Phospholipids
Differentialdiagnose angeborener Lipidosen durch Lipidanalysen von Körperflüssigkeiten, Biopsie- und Autopsiegewebe