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

A new variant form of Fabry disease with hypertrophic cardiomyopathy of late onset is reported. Two unrelated male hemizygotes of this disease first presented with signs and symptoms of cardiomyopathy after 50 years of age. Cultured lymphoblastoid cells showed significantly higher residual alpha-galactosidase A activities than in the patients with classical phenotypic expressions.
 ...
PMID:Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A. 164 38

A case is presented of Fabry's disease manifesting in an adult (aged 64) as hypertrophic nonobstructive cardiomyopathy caused by massive ceramidtrihexoside storage confined exclusively to the cardiocytes. There was no storage detectable in capillaries or in any other structure of the organs examined (liver, pancreas, brain, aorta, pulmonary artery, coronary arteries, heart valves). The clinical picture was dominated by heart failure slowly progressing during the last fifteen years of the patient's life terminated by pulmonary thromboembolism. There were no clinical signs of ocular, renal or skin affection. Since no unfixed tissues were available for enzyme analysis diagnosis had to be done using formaldehyde fixed tissues. The isolated stored lipid was characterized by TLC and by proton magnetic resonance analysis as globotriaosyl ceramide (Gal alpha 1-4 Gal beta 1-4 Glc beta 1-1' Cer) and was proved to be cleaved by control cell homogenates but left intact by those prepared from Fabry mutant cells (leukocytes, cultured fibroblasts). alpha galactosidase activity in each of his four daughters was in heterozygous range (peripheral leukocytes were used for analysis). The existing variants of cardiological syndromes in Fabry's disease are reviewed together with problems of diagnosis of atypical cases.
 ...
PMID:[Fabry's disease with isolated disease of the cardiac muscle, manifesting as hypertrophic cardiomyopathy]. 211 Dec 24

Angiokeratoma corporis diffusum (Fabry's disease) is an X-linked disorder of glycosphingolipid catabolism. Heterozygous females, although usually asymptomatic, are occasionally as severely afflicted as hemizygous males; recently we identified a heterozygous patient with cardiomyopathy and severe pain in the extremities. In order to elucidate the difference of the clinical features, we analyzed the glycolipid composition of the heart, liver, and kidney obtained from the patient and from a hemizygote. Gas-liquid chromatography revealed that globotriaosylceramide (Gb3) was markedly increased in the heart (32.4 times higher than control) and increased to a lesser extent in the liver and kidney (3.74 and 6.79 times, respectively). The pattern of Gb3 accumulation in the heterozygote, where the highest increases were seen in the heart, was distinct from that in the hemizygote, where elevated levels of Gb3 and Ga2 were found in the kidney. Furthermore, the alpha-galactosidase activity in the heart, liver, and kidney of the heterozygote was 17%, 26%, and 36%, respectively, of normal controls, which correlated well with the accumulation of glycosphingolipid in the heart and with the disease's clinical manifestations. Two other hemizygotic patients, who were identified by low alpha-galactosidase activities, demonstrated the cardiac involvement.
 ...
PMID:Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry's disease) in comparison with hemizygotes. 215 88

Fabry's disease is an X-linked disorder of glycolipid catabolism. We have found a symptomatic heterozygous female with cardiomyopathy and severe pain in the extremities. We studied histochemically and biochemically the accumulated glycolipids in spinal and sympathetic ganglia of the patient. Histochemical examination demonstrated the marked glycolipid deposits that have been observed in heterozygous males in these ganglia. Gas-liquid chromatography (GLC) revealed that these accumulated glycolipids were characterized as globotriaosylceramide (Gb3cer) and galabiosylceramide (Ga2cer). In the heterozygous female, the accumulations of Gb3cer in spinal and sympathetic ganglia were, respectively, 34 and 48 times the amount in normal controls. This is the first report on quantitative and qualitative analyses of the accumulated glycolipids in spinal and sympathetic ganglia of a heterozygous carrier female.
 ...
PMID:Accumulation of glycosphingolipids in spinal and sympathetic ganglia of a symptomatic heterozygote of Fabry's disease. 250 Apr 99

Light-, electron microscopic and enzyme histochemical examinations (phosphorylase, LDH, NADH:TR, SDH and 3-HBDH) were performed on endomyocardial biopsies of 26 patients with heart diseases of unknown etiology. On the basis of the clinical findings the patients were grouped into hypertrophic cardiomyopathy patients), dilated-congestive cardiomyopathy (8 patients), latent cardiomyopathy and small vessel disease (11 patients) and myocarditis (4 patients). Morphologic changes which might characterize the pathogenesis, were found in 7 patients: small vessel disease in 3 patients, nonspecific myocarditis in 1, iron storage disease in 1, adriamycin cardiomyopathy in 1 and cardiomyopathy with inclusions typical of Fabry's disease in 1 patient. In the other patients the morphologic changes were not sufficiently characteristic to be indicative of an etiopathogenesis. Several pathologic alterations did, nonetheless, appear to have a certain prognostic value such as endocardial and interstitial fibrosis, myofibrillolysis, myolysis, mitochondrial degeneration and increased lipid content in the muscle fibers. The frequency of these changes was evaluated partly semiquantitatively, partly by means of the point-counting method and graded with 1-3 points. Three patients with congestive cardiomyopathy scored at least 7 points. Two of them died within 8 weeks, 1 patient with adriamycin cardiomyopathy recovered after discontinuation of the therapy but he died 4 years after the biopsy. Six to 50 months after the biopsy (mean 31.5, median 6.5) the score was less than 7 in the other patients and all these patients were still alive. The histochemical changes manifested as an increase and/or a decrease of the enzymatic activities, involving scattered muscle fibers or their segments. A decrease of the activities of all dehydrogenases examined appeared to be prognostically ominous, correlating with a score of 7 or higher. A decrease of SDH activity in 7 cases, in combination with a decrease of the HBDH activity in 4 of them, was indicative of a disturbance in the Krebs cycle and lipid metabolism in the absence of ischemic damage. The alterations in the phosphorylase activity did not, however, appear to have a prognostic significance. Normal activity of the phosphorylase seemed to be prognostically favorable.
 ...
PMID:The usefulness of an endomyocardial biopsy in heart disease of unknown etiology. 301 87

Cardiovascular manifestations of Fabry's disease were studied clinically in 10 hemizygous males and 13 heterozygous females. Mitral valve prolapse was found in 5 of 9 hemizygotes and in 5 of 13 heterozygotes examined by echocardiography. Ordinary medical examinations revealed cardiomyopathy in some asymptomatic females, and the diagnosis of the Fabry heterozygote was established by demonstration of specific inclusion bodies in the biopsied myocardium and low alpha-galactosidase activity in leukocytes. Renovascular hypertension of juvenile onset and thromboembolism were also found in 7 patients. It was concluded that Fabry's disease should always be considered in cases of mitral valve prolapse, cardiomyopathy, renovascular hypertension and thrombosis of unknown etiology, and that the Fabry patients should be followed carefully for the early detection of cardiovascular involvements in this disease.
 ...
PMID:Cardiovascular manifestations in Fabry's disease. A high incidence of mitral valve prolapse in hemizygotes and heterozygotes. 308 63

A man aged 54 years presented multiple symptoms (acroparesthesia, familial deafness, cardiomyopathy, diarrhea, adenopathy with infiltration of frothy macrophages, pancytopenia with a dense marrow, chronic meningitis, renal failure) associated with intermittent fever, with feverish attacks and a temperature of 40 degrees C, and with a severe biologic febrile syndrome. Fabry's disease was diagnosed only after 3 years of fruitless explorations. The reasons for this delay are analysed and it is suggested than Fabry's disease be added to the list of conditions responsible for fever or for a persistent inflammatory syndrome.
 ...
PMID:[Fabry's disease. Rare etiology of a long-term inflammatory syndrome. Apropos of a case]. 309 72

Many metabolic diseases result in pathological changes within the cardiovascular system, often with the most severe effects on the function of the heart and great vessels. Metabolic disorders affecting the heart include disorders of amino acid metabolism, storage diseases, neuromuscular diseases, diseases of metal and pigment metabolism, carnitine deficiency, and connective tissue disorders. Several inborn errors of metabolism may involve the myocardium due to the accumulation of abnormal metabolites in the myocardial cells. In addition, the heart valves and coronary vessels may be involved. If the predominant effect is in the myocardial cell, it will be manifested clinically as a cardiomyopathy. Some disorders, in particular oxalosis, may involve the conduction system as a result of the deposition of oxalate crystals and result in conduction disturbances such as in alkaptonuria, primary oxalosis, and homocystinuria. Myocardial involvement may result in cardiomyopathy of the three functional types: (1) congestive, as in Fabry's disease, (2) hypertrophic, as in glycogen storage disease, type II, or (3) restrictive, as in Gaucher's disease. In the storage disease severe valvular as well as myocardial involvement occur predominantly in the glycogen storage diseases, types II-IV, mucolipidoses, sphingolipidoses, and neuronal ceroid lipofuscinosis. There are a variety of neuromuscular disorders that may be associated with cardiomyopathy, including the muscular dystrophies, Friedreich's ataxia, and Kugelberg-Welander syndrome. The pathological features of these conditions are not specific, but result usually in a congestive form of cardiomyopathy. Patients with metal and pigment metabolic disorders include iron storage disease, either hemochromatosis or transfusional hemosiderosis, Menkes' kinky hair syndrome, and Dubin-Johnson syndrome. Either a restrictive or a congestive form of cardiomyopathy may occur. The systemic form of carnitine deficiency is an autosomal recessive disorder and may present as a cardiomyopathy with congestive heart failure and lipid accumulation in the myocardial cells. Connective tissue disorders are generalized diseases that may involve the heart and valvular tissue, but also the blood vessels. These include Marfan's syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, and pseudo-xanthoma elasticum.
 ...
PMID:The effects of metabolic diseases on the cardiovascular system. 333 40

41 patients have been investigated using invasive techniques including left ventricular endomyocardial biopsy. One of six specimens per patient was investigated biochemically. 8 pts. (group A) suffered from dilated cardiomyopathy (DCM), 13 (group B) from sarcoidosis of the lungs, 20 (group C) from so-called latent cardiomyopathy (LCM). The histological diagnoses were: normal (3 pts.), small vessel disease (4 pts.), unknown etiology (4 pts.), post myocarditis (6 pts.), residual myocarditis (12 pts.), active myocarditis (5 pts.), suspected toxic myocardial disease (6 pts.), Fabry's disease (1 pt.). The enzyme/isoenzyme activities of malate dehydrogenase (MDH), aspartate amino transferase (ASAT) and lactate dehydrogenase (LDH) were measured and compared in different hemodynamic and histologic groups. The enzyme activities from patients with impaired left ventricular function were increased. Independent from left ventricular function the activities of MDH, ASAT and LDH as well mitochondrial isoenzymes were decreased in active and residual myocarditis. The isoenzyme LDH M was increased significantly in active myocarditis and suspected toxic myocardial disease. The measurements of LDH enzyme/isoenzyme profile in myocardial tissue obtained by endomyocardial biopsy seem to support the histological diagnosis of active myocarditis.
 ...
PMID:[Comparative analysis of enzyme activities in endomyocardial biopsy samples of patients with various cardiomyopathies]. 343 49

Enzyme replacement by renal allotransplantation has been suggested as a specific mode of therapy for Fabry's disease. We report a case of Fabry's disease who developed symptoms and signs of heart failure despite successful renal transplantation 14 years ago. Echo- and angiocardiographic features resembled findings in patients with hypertrophic non-obstructive cardiomyopathy. Endomyocardial biopsy specimens demonstrated cardiac manifestation of Fabry's disease.
 ...
PMID:Progressive cardiac involvement by Fabry's disease despite successful renal allotransplantation. 393 26


1 2 3 4 5 6 7 8 9 10 Next >>