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)

[6-2H2]Glucose was used as a tracer for a comparative study on the metabolism of the neutral glycosylceramides in plasma of a control subject and a patient with Fabry's disease. The incorporation of the tracer into the glucosyl and galactosyl moieties of the glycosphingolipids was measured by gas chromatography-mass spectrometry of the tetra-0-acetyl methyl glycoside derivatives. Experiments on the precision and accuracy for measurements of [6,6-2H2]hexose in a sample demonstrated that incorporation of 0.2% or more of [6,6-2H2]glucose could be detected with a 95% confidence limit of +/-0.16%. The labeled substrate (35g) was infused into each subject with a 5-g priming dose and the remainder administered at a constant rate of 3 g/hour over a 10-hour period. During the infusion, the plasma glucose of each subject attained a concentration of about 30% [6,6-2H2]glucose which diminished rapidly after the administration of substrate was complete. A concentration of 0.8% [6,6-2H2]glucose was observed in glucosylceramide (GL-la) from plasma of both subjects between 48 and 72 hours after the infusion began. The label disappeared from this lipid at a logarithmic rate and 0.2% or less of the molecules were labeled 9 days after the experiment began. In contrast to the results with GL-la, the maximum incorporation of [6,6-2H2]hexose into lactosylceramide (galactosyl-(beta1 leads to 4)-glucosylceramide) was 2-fold higher in the Fabry patient (1.6%) than in the control (0.8%). The trihexosylceramide (galactosyl-(alpha1 leads to 4)-galactosyl-(beta1 leads to 4)-glucosylceramide, GL-3a) from plasma of the control reached a maximum of 0.4% [6,6-2H2]hexose in both the glucosyl and galactosyl moieties whereas the GL-3a from the Fabry patient was not significantly labeled. The maximal labeling of the GL-4a fraction (N-acetyl-galactosaminyl-galactosyl-galactosyl-glucosylceramide) was slightly depressed in the Fabry patient (0.4%) as compared to the control (0.7%). Turnover times for the glycosphingolipids of plasma were calculated to be from 4 to 8 days and the turnover rates were from 1 to 6 mumol/day.
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PMID:Metabolism of neutral glycosphingolipids in plasma of a normal human and a patient with Fabry's disease. 80 41

We report the case of a renal transplantation performed with the kidney of an asymptomatic female carrier of Fabry's disease. The recipient, her daughter, had normal alpha-galactosidase levels. Eight years after transplantation, the characteristic lesions of the glomerular epithelial cells, noted as early as 11 days after transplantation, are unchanged on the successive biopsies. This observation suggests that 1) some heterozygotes (perhaps all of them) have glomerular changes, 2) the glomerular changes are not modified if the kidney is placed in a normal enzymatic "environment".
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PMID:[Renal transplantation in patients suffering from Fabry's disease. Kidney transplantation from an heterozygote subject to a subject without Fabry's disease]. 80 52

A sural nerve biopsy of a patient with Fabry's disease showed depletion of larger myelinated fibres, but smaller myelinated and unmyelinated fibres were intact. Epineurial and to a lesser degree endoneurial vessels revealed abundant lamellar inclusions in the endothelial and perithelial cells. Larger myelinated nerve fibres contained glycogen granules in the vacuoles caused by splitting of the adaxonal membranes. A skin biopsy revealed abundant inclusions in the secretory cells and myoepithelial cells of the sweat glands. The lumen of the gland was packed with inclusions like those in the vessel walls. The pain and anhydrosis might be caused by accumulation of glycolipid in the vasa nervorum and sweat glands and not by autonomic nerve involvement.
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PMID:Fabry's disease on the mechanism of the peripheral nerve involvement. 80 81

Fabry's disease was originally considered a skin disease. Mainly affected are epidermis, kidney, heart and vessels. Newer studies show that the disease is an inherited defect of metabolism with abnormal accumulation of "Zeramid-Tri- or-Dihexoside" in different organs. The main clinical symptoms are epidermal changes, cornea verticillata and kidney changes. The diagnosis is verified by kidney biopsy or biochemical analysis of blood and urine. The activity of alpha-galactosidase in the blood is reduced, the secretion of Zeramid-Trihexoside in urine is increased. Causal therapy still does not exist, different methodes of treatment are discussed but still in the experimental stage. A case report is given.
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PMID:[Fabry-Anderson's disease]. 81 19

The light and electron microscopic findings in the heart of a patient with Fabry's disease are described. The study revealed that all cardiac tissues, including the conducting tissues and the valves, were involved. The latter finding was of particular interest since the patient was known to have mitral insufficiency. The findings of diffuse ballooning of the mitral valve with localized "overshoot" and massive glycolipid storage in the valve substance suggest that the abnormal storage process was itself responsible for the valvular insufficiency. The widespread involvement of the myocardium and conducting tissues is consistent with the elelctrocardiographic changes indicating infarction, although myocardial necrosis was not observed. The findings in this case suggest that the cardiac manifestations in Fabry's disease can be either primary, that is, directly related to the enzyme deficiency, or secondary, that is, evolving with time as a consequence of the disease.
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PMID:Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction. 81 52

Plasma neutral glycolipid levels and plasma and leukocyte alpha-galactosidase activities were measured serially before and after renal allotransplantation in two men, aged 47 and 45 years, with renal failure due to Fabry's disease. The patients were followed posttransplantation for 92 and 64 weeks, respectively. No significant elevation of plasma or leukocyte alpha-galactosidase activities above levels in untreated men with Fabry's disease or decrease in the levels of trihexosyl ceramide was observed in either patient. The results do not support the use of renal allotransplantation for enzyme replacement in Fabry's disease.
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PMID:Failure to correct the metabolic defect by renal allotransplantion in Fabry's disease. 81 4

The alpha-galactosidase A activity from fibroblasts of five Fabry patients and five controls has been separated from alpha-galactosidase B through small DEAE-cellulose columns and in some experiments by treatment of the fibroblast extracts with Sepharose coupled to anti-alpha-galactosidase B antibodies. By these independent methods, it has been shown that there is a residual alpha-galactosidase A in Fabry's disease, which is immunologically similar to the alpha-galactosidase A from the controls. The alpha-galactosidase A from all of the patients and controls has the same apparent Km value for the synthetic substrate 4-methylumbelliferyl-alpha-galactosidase A, while the fifth has a thermolabile enzyme like that from the controls. The amount of immunologically active alpha-galactosidase A seems to be decreased in the patients tested.
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PMID:Residual activity of alpha-galactosidase A in Fabry's disease. 81 85

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 oral lesions in two previously reported cases of fucosidosis are discussed. The patients have coarse facies, severe mental retardation, spondyloepiphyseal dysplasia, deficiency of a-L-fucosidase, and red punctate lesions of the skin and oral mucosa. Gingival biopsy specimens showed that these lesions were identical to the angiokeratoma corporis diffusum reported in Fabry's disease, but had different locations. Because of the slowly progressing psychomotor retardation and recurrent upper respiratory tract infections that the prognosis for patients with this disease is poor. Treatment appears to be aimed at early diagnosis through amniocentesis.
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PMID:Oral lesions in fucosidosis. 81 38

Fabry's disease (angiokeratoma corporis diffusum) can be diagnosed by determination of alpha-galactosidase activity in single hair roots. A technique has been developed permitting subsequent analysis of enzyme activity and protein content of hair root cells. We have applied this method examining 8 obligatorily heterozygous sisters as well as their 5 daughters and 10 sons. Especially for identification of heterozygotes, the method described proved to be easy and reliable.
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PMID:Fabry's disease: heterozygote detection by hair root analysis. 82 Jun 27


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