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)

Four patients with Fabry's disease diagnosed by right ventricular endomyocardial biopsy had cardiac manifestations simulating hypertrophic cardiomyopathy (HCM). Case 1: A 51-year-old woman, whose elder sister had congestive heart failure, was hospitalized for exertional dyspnea and cardiomegaly. Her electrocardiogram (ECG) showed a short PQ interval (0.10 sec) and left ventricular hypertrophy. Her echocardiogram (Echo) showed moderate symmetrical hypertrophy of the left ventricle (IVST/PWT = 18 mm/17 mm). Case 2: A 32-year-old woman, whose elder sister had an abnormal ECG, was hospitalized for the ECG abnormalities consisting of a short PQ interval (0.10 sec) and ST-T changes in the left precordial leads. The Echo revealed mild symmetrical hypertrophy of the left ventricle (IVST = 13 mm, PWT = 13 mm). Case 3: A 44-year-old man was hospitalized for his ECG suggestive of left ventricular hypertrophy, and his Echo showed asymmetrical septal hypertrophy (ASH; IVST = 22 mm). Case 4: A 51-year-old man was hospitalized for his ECG showing high voltage in the left precordial leads, and his Echo showed ASH (IVST = 20 mm). The cardiac histopathological findings of these cases included cytoplasmic vacuolization by light microscopy, and electron-dense deposits consisting of parallel or concentric lamellae with periodic spacing, suggesting Fabry's disease. The urinary glycolipids of Case 1 were increased biochemically; then the diagnosis of Fabry's disease was confirmed. Cardiac hypertrophy in Fabry's disease has many aspects, because the histopathological changes and clinical manifestations are determined by genetic factors. It was concluded that Fabry's disease may be concealed in some patients with the clinical diagnosis of HCM.
J Cardiol 1988 Sep
PMID:[Four cases of Fabry's disease mimicking hypertrophic cardiomyopathy]. 297 98

A 52-year-old black female teacher's aide presented for an eye examination with a complaint of progressively worsening vision, stinging and burning of the eyes, and occasional foreign body sensation. Examination revealed a dry eye syndrome and corneal dystrophy consistent with Fabry's disease, a cardiovascular disease with significant systemic as well as ocular findings. The patient was treated for the acute corneal symptoms and closely followed for progression of the dystrophic corneal changes.
J Am Optom Assoc 1986 Sep
PMID:Ocular manifestations of Fabry's disease. 309 13

A survey was made of the glycolipid composition of various tissues, including liver, spleen, kidney (cortex and medulla), lymph node, pancreas, prostate gland, heart muscle, thenar muscle, gastrointestinal smooth muscle, frontal cerebral cortex, anterior thalamus, brain stem, a peripheral autonomic ganglion, and renal arterial intima and media, from a patient who died with Fabry's disease. The tissues had been fixed in formalin for 3 yr. Analytical data on trihexosyl ceramide from heart muscle and pancreas indicate a structure identical to trihexosyl ceramide from kidney: galactosylgalactosylglucosyl ceramide. Fatty acid compositions of trihexosyl ceramide and dihexosyl ceramide revealed a wide range of fatty acids, with 16:0, 18:0, 20:0, 22:0, 24:0, and 24:1 predominating. These glycolipids comprised 10-41% of the total lipid in the formalin-fixed organs studied. Trihexosyl ceramide predominated in all tissues and was the only glycolipid found in muscle tissues, lymph node, and arterial tissues. Dihexosyl ceramide was found in kidney, pancreas, liver, spleen, and cerebral tissues. The accumulation of trihexosyl ceramide in cardiac muscle and arterial tissues may account in part for the cardiovascular complications so prominent in Fabry's disease.
J Lipid Res 1969 Sep
PMID:Tissue distribution of glycosphingolipids in a case of Fabry's disease. 430 91

Two patients with Fabry's disease were infused with normal plasma to provide active enzyme (ceramide trihexosidase) for hydrolysis of the plasma substrate, galactosylgalactosylglucosylceramide. Maximum ceramide trihexosidase activity occurred 6 hours after infusion of the plasma, attaining a level approximately 150 percent of that in normal plasma; enzymatic activity was detectable for 7 days. The amount of accumulated substrate in the plasma of these recipients decreased about 50 percent on day 10 after infusion. Thus, periodic replacement of ceramide trihexosidase activity in the plasma of patients with Fabry's disease might lead to consistently lower amounts of substrate in the plasma and a decrease in its rate of accumulation in tissues.
Science 1970 Sep 04
PMID:Enzyme replacement in Fabry's disease, an inborn error of metabolism. 491 26

We evaluated gastrointestinal structure and function in 13 hemizygous males and 17 heterozygous females, five to 67 years old, from four kindreds with Fabry's disease. Gastrointestinal symptoms, noted in 62% (8/13) of the males and 29% (5/17) of the females, were present prior to the diagnosis of Fabry's disease in five patients; were discovered at the time of study in six patients and were associated with multiple other symptoms in two patients. Serum protein, albumin, folate, Vitamin B12, calcium, phosphorous, cholesterol and iron were normal in all 30 patients. Xylose absorption was normal in 2/2 males and 13/13 females studied. HLA B8 antigen was present in none of the males and 2/17 females. Peroral duodenal (one male), jejunal (six males, two females) and rectal (one male) biopsies on light microscopy demonstrated a normal villous pattern and luxol-fast blue positive "foamy" cell deposits in all males, while no deposits were visualized in the females. In all males and females studied, electron microscopic examination showed electron dense, intralysosomal "zebra-like" (0.5-0.75 micrometer.) bodies in the vascular endothelial and perithelial cells and in the cytoplasm of the small unmyelinated neurons, and perineurial cells. Despite the frequency of gastrointestinal symptoms, both malabsorption and celiac disease were absent.
Am J Gastroenterol 1981 Sep
PMID:Gastrointestinal structure and function in Fabry's disease. 627 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.
Clin Chem 1980 Sep
PMID:Application of "high-performance" liquid chromatography to the study of sphingolipidoses. 677 1

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.
Pediatr Dermatol 1995 Sep
PMID:Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease. 750 49

The effect of galactose on alpha-galactosidase missense mutants causing Fabry disease was investigated in the COS-1 cell expression system and lymphoblasts. Three mutant enzymes, A156V, L166V and Q279E, showed increases in activity and amount in COS-1 cells cultured with galactose. Another mutant without catalytic activity, C142Y, did not show any changes. In lymphoblasts cultured with galactose, the enzyme activity increased significantly in four classical Fabry patients with the respective mutations, A156V, L166V, G260A and G373S, and in three atypical Fabry patients with the respective mutations, Q279E, R301Q and M296I. Such an increase was not observed in the other four classical Fabry patients, with C142Y, E66Q/R112C, G328R and N320K, respectively. This suggests that many missense mutations in the alpha-galactosidase gene causing Fabry disease allow the expression of catalytically active mutant enzymes regardless of the clinical phenotype, which are rapidly degraded under physiological conditions and stabilized by galactose.
Biochem Biophys Res Commun 1995 Sep 25
PMID:Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. 757 33

This report concerns an 18-year-old boy who is hemizygote for Fabry's disease. Varying degrees of nonpulsating headache crises, lasting from a few hours to several days, began when he was 16 years of age. Painful crises in the extremities, characteristic of Fabry's disease, were not present. Although only occasional, he had several episodes of throbbing headache with vomiting without aura. The meningeal signs were equivocal, although the patient had noninfectious pleocytosis, intracranial hypertension, delayed radioisotope clearance on cisternography, and multiple old cerebral infarcts. Nonsteroidal anti-inflammatory drugs, antidepressants, carbamazepine, and glycerol were of no benefit for his headache. Although its mode of action remains obscure, prednisolone was effective for treating the headache and the aseptic meningeal reaction.
Headache 1995 Sep
PMID:Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease. 759 47

A 20-year-old man was admitted with telangiectatic skin lesions over the lower abdomen, buttocks and genitals and also hypohidrosis and heat intolerance. Fabry disease was diagnosed on the basis of biochemical and histopathological analyses. The concentration of urinary trihexosyl-ceramide was increased but the activity of galactosidase in serum, urine and lymphocytes was marginal. Typical lipid inclusions, showing a concentrically arranged, lamellar osmiophilic structure were identified by electron microscopy in the cytoplasm of endothelial cells from affected skin.
Harefuah 1994 Sep
PMID:[Fabry disease: systemic deposition of a glycolipid]. 799 82


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