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)

A 49-year-old man with angiokeratoma corporis diffusum is reported. Dermatological, ophthalmological or renal abnormalities have so far been found in 14 of the relatives of the patient. The typical dermal signs of the patient appeared on the distal part of the trunk at the age of 5-6 years, and swelling of the left leg occurred in adulthood. Besides the bicuspidal insufficiency, examination revealed ophthalmological symptoms, signs of renal damage, and the alpha-galactosidase activity deficiency of the leucocytes.
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PMID:[Anderson-Fabry disease (angiokeratoma corporis diffusum)]. 641 69

Fabry's disease is one of the sphingolipidoses which results from the enzyme deficiency, alpha-galactosidase-A. It is a rare, hereditary, multiorgan disorder affecting the eye, skin, kidney, gastrointestinal system, heart, reticuloendothelial system, and central nervous system. Because all affected males and 90% of affected females exhibit ocular abnormalities, optometrists may be the first health care practitioners to identify these individuals.
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PMID:Fabry's disease (angiokeratoma corporis diffusum universale): ocular and associated findings. 641 87

We studied the ECGs of 47 kindred members from three families with Fabry's disease. The control group (19) with normal plasma alpha-galactosidase levels had normal ECGs. Of the 12 affected males (mean age 15 years, plasma alpha-galactosidase levels less than 10% of normals), ten had ECG evidence of LVH, and five had ST-T wave changes. The conduction time of the cardiac impulse was accelerated (decreased PR index) in one male. Of the 16 heterozygous females (mean age 19 years, plasma alpha-galactosidase level and alpha/beta galactosidase ratio in the carrier range) none had ECG evidence of LVH, but six had conduction abnormalities--decreased PR index (four) and delayed conduction (two). The ECG abnormalities were uniformly distributed in different age groups.
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PMID:Electrocardiograms in Fabry's disease. 646 9

A method for staining of alpha-galactosidase with the synthetic substrate alpha-naphthyl-alpha-galactopyranoside after isoelectric focusing on gel slabs has been devised. Depending on the method used for cell extraction, at least seven isozymes could be detected in cell extracts of cultured fibroblasts from normal individuals. Thermal treatment revealed that both heat-stable and heat-labile isozymes occur in normal fibroblasts. The heat-labile isozymes were not detected in cells from Fabry hemizygotes and thus truly reflect products of the alpha-gal A locus. Three heat-stable isozymes observed in normal individuals were also found in Fabry heterozygotes and hemizygotes and are presumably determined by the alpha-gal B locus. The remaining isozymes were stained very weakly in the hemizygotes and were heat-stable. The relation of these isozymes to the A or B locus is uncertain. After treatment with neuraminidase the alpha-gal A isozymes could not be detected and one of the alpha-gal B isozymes appeared broader. The isozyme pattern observed in heterozygotes was almost identical to the normal one.
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PMID:alpha-Galactosidase isozymes in normal individuals, and in Fabry hemizygotes and heterozygotes. 677 88

Quantitative high-performance liquid chromatographic analysis of perbenzoylated sphingolipids has been used to study the correlations of body chemistry to clinical phenomena. Plasma sphingolipids were isolated from 32 Gaucher (beta-glucosidase deficiency) and six Fabry (alpha-galactosidase deficiency) patients by solvent partition and chromatographic separation on silicic acid columns. Plasma sphingolipids from a patient undergoing plasma-exchange were separated from interfering lipids with reversed-phase columns. Liquid-chromatographic analysis of sphingolipids provides useful supportive information for diagnoses because affected individuals are shown to possess increased circulating concentrations of the pathognomonic sphingolipid. We also used this technique to monitor sphingolipid concentrations in plasma and urine sediment during plasma exchange of a p atient with Fabry's disease. Regular plasma exchanges produced and maintained decreased concentrations of sphingolipids in plasma, but near pre-exchange concentrations were observed within days after the therapy was terminated.
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PMID:Application of "high-performance" liquid chromatography to the study of sphingolipidoses. 677 1

A histochemical study was performed on light- and electron-microscopic level in a case of Fabry's disease. The patient underwent kidney transplantation for renal failure and died of heart failure 6 months later. Patient's tissues were studied at the light- and electron-microscopic levels with various embedding and staining techniques for lipids and carbohydrates. Two peroxidase-labeled lectins (from Ricinus communis and from Bandeiraea simplicifolia) known to have affinity for alpha- and beta-D-galactose, were strongly reactive with the storage material on frozen sections. The ultrahistochemical and extraction tests showed that the typical granules had a variable reactivity and morphologic characteristics in different cells, probably reflecting different composition. A small number of typical deposits were also observed in the transplanted kidney. This is the first reported case of recurrence of the storage disease in the allograft. Of interest was also the fact that the patient's blood inhibited normal alpha-galactosidase activity, suggesting a possible inhibitor-related mechanism in the pathogenesis of the recurrence.
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PMID:Light- and electron-microscopic histochemistry of Fabry's disease. 678 1

Fabry's disease is a rare familial disorder of glycolipid metabolism which is caused by a deficiency of a lysosomal enzyme alpha-galactosidase. A Finnish family is described in which cornea verticillata was found in the father and 2 daughters. In all cases, there were symptoms suggesting Fabry's disease: febrile episodes the origin of which was not clear, limb pains and, in the case of the father, 20 years of proteinuria with elevated ESR, and hemiplegia and aphasia following a cerebral thrombosis at the age of 43. The diagnosis was confirmed by demonstration of an alpha-galactosidase deficit in the serum and urine of all patients. Deficiency of this enzyme leads to abnormally high urinary tri- and dihexosyl ceramide levels, and this was observed in the father and the elder daughter. At the age of 12, the daughter had loss of vision in her right eye as a result of occlusion of the central retinal artery. Electron microscopic (EM) examination of the father's dermal angioma suggested Fabry's disease. Computerized cranial tomography of the father revealed not only the cerebrovascular condition but also a disease affecting the white matter of the brain.
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PMID:Fabry's disease and cornea verticillata. A report of 3 cases. 679 29

Three patients with Fabry's disease with a similar clinical picture, including recurrent burning sensations in the extremities, hypohidrosis and slowly progressive renal insufficiency, have been investigated metabolically at different stages of renal impairment. One patient died after three unsuccessful renal transplantations in a 4-year period of intermittent haemodialysis with disabling pains. One successfully transplanted patient is still alive and well, 12 years after the start of therapy. Thermolabile alpha-galactosidase has been demonstrated in his urine. The third patient has slowly progressive renal impairment. No therapeutic enzyme replacement available today is ideal. Early diagnosis is therefore necessary to increase the possibilities of prenatal diagnosis and genetic counseling.
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PMID:Clinical and diagnostic considerations in Fabry's disease. 680 7

Generalized anhidrosis with heat collapse, painful fingers, and angiokeratomas were the presenting signs in a 23-year-old man who was shown by enzyme studies and electron microscopy to have Fabry disease. His 6-year-old brother had the early diagnostic findings of episodic painful fingers, heat intolerance, and retroauricular telangiectasia. Both had an absence of alpha-galactosidase. Over 6 years of observation, the older brother developed progressive renal failure and the younger one developed acrodynia and anhidrosis. Their mother had diminished alpha-galactosidase activity and several angiomatous papules on one breast. A review of Fabry disease emphasizes the need for skin inspection for angiomas and telangiectasia, and enzyme assay in patients with inexplicable complaints or findings. Carrier females are most easily recognized by the presence of unique corneal opacities.
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PMID:Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease. 750 49

We describe a female patient with heterozygous Fabry's disease. The patient had persistent proteinuria and microhematuria but lacked any other diagnostic signs such as corneal and cutaneous involvement. Kidney tissue obtained at biopsy showed the segmentally distributed enlarged glomerular epithelia. These cells were filled with vacuolated foamy cytoplasm, which had lamellar and myelinoid structures under electronmicroscopic observation. Accumulation of trihexosylceramide (CTH) in these foamy epithelial cells was confirmed with immunohistochemical staining with the use of anti-CTH monoclonal antibody. Alpha-galactosidase activity of leukocytes was 67 nmol/mg protein/hr, which was approximately half that of the normal population (mean +/- SD, 147 +/- 65 nmol/mg protein/hr, n = 20). All of these findings were compatible with the diagnosis of heterozygous Fabry's disease. We recommend that kidney tissue biopsy specimens suggesting Fabry's disease be immunostained with anti-CTH antibody.
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PMID:A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody. 750 71


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