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)

Optimal assay conditions are described for plasma alpha-galactosidase, beta-glactosidase, beta-glucuronidase, alpha-mannosidase, alpha-glucosidase, N-acetyl-beta-glucosaminidase, alpha-fucosidase, N-acetyl-alpha-glucosaminidase, acid phosphatase and arylsulphatase A. The levels of these activities in normal adults and children, and the stabilities of the activities on storage at -20 degrees C or 4 degrees C, are reported. The levels of these enzymic activities in plasma from patients with Fabry, Pompe, Sanfilippo A, Sanfilippo B, Tay Sachs and Hunter diseases, GM1-gangliosidosis and metachromatic leucodystrophy are described, and the possibility of using plasma hydrolase activities in the diagnosis of these conditions is discussed.
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PMID:Plasma acid hydrolases in normal adults and children, and in patients with some lysosomal storage diseases. 3 Dec 50

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.
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PMID:[Differential diagnosis of congenital lipidoses by lipid analyses of body fluids, biopsy and autopsy tissue]. 5 74

A cherry-red spot in the macular region of the fundus is the hallmark of the metabolic disorder known as Tay-Sachs disease. Ocular involvement is also a frequent concomitant of generalized gangliosidosis Niemann-Pick disease, and Fabry's disease. Ophthalmologists who are aware of these manifestations are often the first to derive the correct diagnosis in patients with these heritable conditions.
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PMID:Ophthalmologic aspects of lipid storage diseases. 10 34

A preliminary report on the use of microtechniques for the detection of three lysosomal storage diseases (Tay-Sachs, GM1-gangliosidosis and Fabry disease) is presented. This microassay method uses from 100 to 300 cultured amniotic fluid cells or skin fibroblasts. A comparison between values for total activity and heat inactivated forms of hexosaminidase (in Tay-Sachs disease) is presented. The feasibility of the use of this microtechnique in prenatal diagnosis is discussed.
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PMID:Use of microtechniques for the detection of lysosomal enzyme disorders: Tay-Sachs disease, Gm1-gangliosidosis and Fabry disease. 21 59

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

The release of acid hydrolases from cultured skin fibroblasts into the cell culture medium was studied in several lysosomal storage disorders (GM1-gangliosidosis, Fabry's disease, Hurler's disease, mannosidosis, and mucolipidosis). The levels of different activities were proportional to time (up to 44 h after medium change) and cell density with the exception of beta-glucosidase, which was not released. Culture medium from the fibroblasts of mucolipidosis patients exhibited higher activity of acid hydrolases than medium from cells of patients with GM1-gangliosidosis, Fabry's disease, Hurler's disease, and mannosidosis. These cells, however, exhibited somewhat higher levels of enzyme activity in their culture medium than control fibroblasts. The total production of acid hydrolases was yet rather similar in fibroblasts from controls and patients. Differential centrifugation showed that the highest specific activity of acid hydrolases was seen, as expected, in the lysosomal fraction, except in fibroblasts from patients with mucolipidosis, where the supernatant exhibited most activity. beta-Glucosidase, however, showed a normal differential centrifugation pattern also in fibroblasts from these patients.
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PMID:Lysosomal enzymes in medium from cultured skin fibroblasts from normal individuals and patients with lysosomal diseases. 40 77

Contemporary possibilities for the histochemical diagnosis of lipidoses are demonstrated in examples of phospholipidoses, Gaucher's disease, Fabry's disease, sulphatidosis, gangliosidosis and neuronal ceroid-lipofuscinoses.
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PMID:Histochemical diagnosis of lipidoses. 61 73

We report a new assay for the detection of individuals heterozygous and homozygous for Gaucher's disease which requires relatively small samples of whole blood (0.3 ml), and which determines 4-methylumbelliferyl-beta-D-glucopyranoside:beta-glucosidase activity under conditions optimal for the determination of leukocyte glucocerebroside:beta-glucocereborsidase activity. The procedure involves the preparation of a leukocyte pellet from 50 mul of whole blood by hypotonic lysis of erythrocytes, followed by assay of beta-glucosidase activity at pH 5.5 in the presence of sodium taurocholate (0.6 g/100 ml). The methods described may also prove to be useful for the diagnosis of other diseases of enzyme deficiency which use fluorogenic substrates and leukocytes as a source of enzyme, such as Fabry's disease, Tay-Sachs disease, and generalized gangliosidosis.
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PMID:A microassay for Gaucher's disease. 80 4

Ultrastructural study of 2 human renal adenocarcinomas demonstrated abundant myelinoid lamellated cytoplasmic inclusions, which were restricted to the neoplastic cells. They were structurally similar to those reported in renal adenocarcinomas chemically induced in rats; to those described in human diseases involving defects in lipid metabolism, including Gm2 gangliosidosis, Fabry's disease, Nieman-Pick disease, and juvenile-type neuronal ceroid-lipofuscinosis. Similar inclusions have also been reported to be induced by several drugs, none of which were taken by these patients. The occurrence of these lamellated inclusions in 2 human renal adenocarcinomas reinforces the phenotypic similarity between nitrosomorpholine-induced renal adenocarcinomas in rats and some renal adenocarcinomas seen in humans.
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PMID:Myelinoid lamellated cytoplasmic inclusions in human renal adenocarcinomas: an ultrastructural study. 283 91

For the purpose of evaluating electron microscopy of tissue culture in making the diagnosis of sphingolipidoses, an ultrastructural study was made on the cultured fibroblasts from 23 patients with the disorders. The characteristic cytoplasmic inclusions were observed in the cultured cells of Fabry disease, Tay-Sachs disease, Sandhoff disease, generalized gangliosidosis, Niemann-Pick disease, metachromatic leukodystrophy, and multiple sulfatase deficiency, and differ in fine structure with these diseases. All these cytoplasmic inclusions were surrounded by a single limiting membrane and enzyme cytochemically showed acid phosphatase activity, indicating their lysosomal origin. Ultrastructurally, the cytoplasmic inclusions showed pleomorphic osmiophilic inclusions in Fabry disease, membranous cytoplasmic bodies (MCB) in Tay-Sachs disease and Sandhoff disease, MCB and vacuolar inclusions containing finely reticulogranular materials in generalized gangliosidosis, myelin-like inclusions in Niemann-Pick disease, concentric lamellar inclusions in metachromatic leukodystrophy, and polymorphic cytoplasmic inclusions in multiple sulfatase deficiency. In the heterozygous carriers of Fabry disease, pleomorphic osmiophilic inclusions were also detected. However, any specific inclusions were not detectable in the cultured fibroblasts of Gaucher disease and Krabbe disease. Availability of electron microscopy in the cultured fibroblasts of sphingolipidoses is discussed.
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PMID:Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses. 303 47


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