Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An outline of the pathways of catabolism of four sphingolipids to ceramide, along with structural details of a few constituents, serves as a framework for better understanding of the sphingolipidoses. The four sphingolipids are sulfatide, sphingomyelin, globoside, and ganglioside GM1. Diseases which can be incorporated into the scheme include Niemann-Pick disease, Gaucher disease, metachromatic leukodystrophy, Krabbe disease, ceramide lactoside lipidosis, Tay-Sachs disease, generalized gangliosidosis, Fabry disease, and Sandhoff disease. Fucosidosis probably also belongs with this group. GM3 (hematoside) sphingolipodystrophy involves blocks in synthetic rather than catabolic pathways.
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PMID:The sphiningolipidoses: an overview. 40 52

Electron microscopic study of oral mucosa from a patient with Anderson-Fabry disease (glycosphingolipid lipidosis) revealed lamellar and membranous osmiophilic intracytoplasmic inclusions having a periodicity of 4.5 nanometers. These were observed chiefly in reticulo-endothelial cells as membrane bound and occasionally unbound bodies. They could also be observed within the cytoplasm of squamous epithelial cells, particularly of the stratum germinativum. Morphologic features in endothelial and epithelial cells are described.
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PMID:Ultrastructural observations of the oral mucosa in Anderson-Fabry disease. 81 16

The lipids accumulated in organs of patients with Gaucher's, Tay-Sachs, and Fabry's disease were identified by means of the combination of thin-layer chromatography and matrix-assisted secondary ion mass spectrometry. The total lipid extract of each lipidosis tissue was chromatographed on a TLC plate and then analyzed directly by mass spectrometry without elution of the sample from the TLC plate. The amount of material needed to obtain an adequate spectrum is in the order of a few micrograms of lipids per band for both positive and negative ion detection. By scanning the plates, mass spectral and chromatographic information can be obtained simultaneously, which was shown to be useful for the qualitative identification of the components on the plates.
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PMID:Direct analysis of glycolipids on thin-layer plates by matrix-assisted secondary ion mass spectrometry: application for glycolipid storage disorders. 314 74

Concentrations of four neutral glycosyl ceramides were determined in plasma and erythrocytes from nine hemizygous patients with Fabry's disease (a hereditary glycolipid lipidosis), from the sister of one of the patients, and from the heterozygous mother of another one. The concentration of a trihexosyl ceramide, galactosylgalactosylglucosyl ceramide, was elevated in plasma from the patients about threefold above the normal mean level, and the amount of this lipid was also increased in plasma from the two female relatives. The concentrations of glucosyl ceramide and lactosyl ceramide in plasma were slightly less than normal in the affected males, while globoside or a similar tetrahexosyl ceramide was slightly higher than normal. All but one of the Fabry patients had significantly less globoside in the red cells, as compared with the normal range, although the red cell concentration of trihexosyl ceramide was normal in all of the patients. Thus the concentration of the lipid that accumulates in the tissues in Fabry's disease is elevated in plasma but not in red cells, whereas in Gaucher's disease the accumulating lipid (glucosyl ceramide) is elevated in both plasma and red cells.
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PMID:Concentrations of glycosyl ceramides in plasma and red cells in Fabry's disease, a glycolipid lipidosis. 578 55

A case of glycolipid lipoidosis (Fabry's disease) in a 27-year-old man is recorded. The case is unusual in that despite extensive disease evidenced by widespread skin lesions, ocular abnormalities, and proteinuria, renal function was only minimally impaired. Electron microscope studies of kidney and skin showed that most cells contained the characteristic lipid described in this condition.
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PMID:Clinical and electron microscopic studies of a case of glycolipid lipoidosis (Fabry's disease). 601 85

Lysosomal acid hydrolase activities have been measured in extracts of peripheral blood leucocytes of approximately 1600 patients referred from throughout Australia, each of whom was suspected of having a neurolipidosis. Assays for 12 different lysosomal enzymes were performed on each patient as a routine; ten assay systems were based on commercially available substrates, and four used radiolabelled glycosphingolipids prepared in our own laboratory. Of the 85 patients with positive results, 81 were diagnosed as being homozygous-deficient for a particular lysosomal enzyme. These patients comprised nine with GM1-gangliosidosis, 12 with GM2-gangliosidosis (11 of Tay-Sachs' disease and one of Sandhoff's disease), 18 with trihexosylceramide lipidosis (Fabry's disease), eight with beta-galactosylceramide lipidosis (Krabbe's disease), 14 with beta-glucosylceramide lipidosis (Gaucher's disease), two with sphingomyelin lipidosis (Niemann-Pick disease), 13 with metachromatic leucodystrophy and five with alpha-mannosidosis. In addition, four patients were diagnosed as being affected with mucolipidosis Type II (I-cell disease), based on elevated plasma lysosomal enzyme activities, making a total of 85 homozygous-affected patients. Clinically the patients showed wide phenotypic variability within each of the enzyme-deficient states, which did not appear to correlate with the level of "residual" enzyme activity in their leucocyte extracts.
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PMID:Enzymological diagnosis of a group of lysosomal storage diseases. Review of 5-year experience of 1600 patient-sample referrals. 678 Jul 72

Among 37 patients treated with amiodarone, an antiarrhythmic drug, a typical keratopathy developed in 35, none of whom had ocular complaints. The keratopathy resembled that seen with Fabry's disease and chloroquine use, as did the membrane-bound lamellar bodies detected by electron microscopy in all layers of the corneal epithelium in the one patient with marked keratopathy in whom a corneal biopsy was performed; membrane-bound bodies, mostly granular, were also noted within this patient's stromal keratocytes. The possible pathogenesis of the keratopathy as a type of drug-induced lipidosis is discussed.
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PMID:Amiodarone-induced cornea verticillata. 711 20

The combined use of immunofluorescence method with oligosaccharide-specific monoclonal antibodies against glycolipids and a confocal laser scanning microscopic system was successful to detect the storage of glycolipids in cultured cells derived from patients with lysosomal diseases. The accumulated glycolipids were observed stereoscopically as granular inclusions in the cells. An immunofluorometric semiquantative determination was achieved of globotriaosylceramide in cultured fibroblasts from Fabry disease patients or GM2-ganglioside in cultured amniocytes from Tay-Sachs disease. Heterozygote identification of the former disease or prenatal diagnosis of the latter one were confirmed by counting immunoreactive cells or by digital imaging analysis. The present immunofluorescence method is applicable to the diagnosis of the other lipidosis with accumulation of the specific glycolipids.
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PMID:[Glycolipid analysis by confocal laser scanning microscopic system]. 857 65

Lipidoses occur for an abnormal storage parenchymal deposition of lipids and products of their metabolism in large amounts or sometimes, involving only some particular tissue structures. The lipid storage is usually due to an inborn error causing an enzyme absence /deficiency in the primary lipidoses and to a complex metabolism alterations in the secondary forms. However, histologically all lipid depositions look very similar, and immunohistochemical investigation, clinical pictures knowledge and genetic tests need to make a correct diagnosis. Lipid deposition causes parenchymal structural changes especially of glomeruli resulting in renal function impairment and proteinuria and haematuria appearance. This manuscript gathers clinical and histological features present in these storage pathologies. Renal involvement is described in Anderson-Fabry disease, in hyperlipoproteinemias, in lecithin-cholesterol acyltransferase deficiency, in Gaucher disease and finally in secondary lipidoses features such as nephrotic syndrome, Alagille disease, and toxic or ischemic renal damage. Recently the replacement enzymatic therapy availability is substantially modifying the clinical picture and the outcome in some lipidoses such as Anderson-Fabry and Gaucher diseases. Therefore, it is import to be aware of these disorders, not only for making a correct diagnosis but also for starting, when it is possible, an effective therapy.
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PMID:[Glomerular lipidosis]. 2796 19