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)

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.
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PMID:Cardiovascular manifestations in Fabry's disease. A high incidence of mitral valve prolapse in hemizygotes and heterozygotes. 308 63

Fabry's disease is glycolipid sphingolipidosis which belongs to the group of lipid storage diseases and has as its underlying cause congenital deficiency of alpha-galactosidase. The pathologic anatomy of visceral lesions is described at the macroscopic, light-optical, and electron-microscopic levels in a 50-year-old male with striking systemic manifestations of Fabry's disease. In addition to lesions typical for glycolipid sphingolipidosis, atherosclerosis involving primarily heart arteries (which is not characteristic for this disease) was found in the patient. This case demonstrates that although cutaneous lesions underlie the traditional designation of Fabry's disease as angiokeratoma corporis diffusum, skin involvement is only one of its external signs.
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PMID:[Visceral manifestations of glycosphingolipidosis (Fabry's disease)]. 311 21

Myoinositol appears to be a competitive inhibitor of alpha-galactosidase activity in fibroblasts of normal human skin but not of the residual alpha-galactosidase activity of fibroblasts obtained from patients with Fabry's disease. It is suggested that normal fibroblasts contain two alpha-galactosidases, only one of which is present in cells from patients with Fabry's disease, and that these enzymes can be distinguished by their different Michaelis constants, rates of heat inactivation, and responses to the inhibitor myoinositol.
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PMID:Fabry's disease: differentiation between two forms of -galactosidase by myoinositol. 505 Apr 85

The leukocytes of male patients with Fabry's disease are deficient in alpha-galactosidase. The alpha-galactosidase activity in the leukocytes of female carriers of the disease is 15 to 40 percent of the amount present in normal leukocytes. The activities of beta-galactosidase, beta-acetylgalactosaminidase, and beta-acetylglucosaminidase in the leukocytes of affected individuals are normal.
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PMID:Fabry's disease: alpha-galactosidase deficiency. 541 15

Skin fibroblasts from a patient with Fabry's disease showed deficient activity of alpha-galactosidase. Fibroblasts from his mother and sister had two distinct clonal populations, one with enzymatic activity and the other enzyme deficient. This provides evidence of genetic inactivation at the alpha-galactosidase locus and makes possible the detection of carriers of Fabry's disease even when the enzymatic activity in their leukocytes and uncloned fibroblasts is within the range of controls.
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PMID:Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease. 546 14

The metabolism of ceramide trihexoside (CTH) was studied in cultured skin fibroblasts from Fabry's patients, carriers, and controls. The in vitro activities of alpha-galactosidase in fibroblasts using either artificial substrate or CTH led to a clear identification of 4 Fabry's patients, 6 carriers and 8 controls. Normal findings were noted in one carrier. In fibroblasts from Fabry's patients, the residual activities assayed with CTH were less than those with the artificial substrate. In the CTH-loading test, the incorporation and hydrolysis of CTH in the fibroblasts were closely related with the culture time and CTH-concentration in the medium. With 0.5 nmol CTH per flask (25 cm2 growth area, 3 ml of medium), the hydrolysis rate of CTH, based on its incorporation, was 2.1% in fibroblasts from 4 Fabry's patients, 82.0% in 10 controls and 47.1% in 6 out of 7 carriers on the 7th day of culture. The impaired hydrolysis in carriers' fibroblasts differs from the hydrolysis noted in fibroblasts from carriers of autosomal recessive sphingolipidoses with a normal hydrolysis. These findings explain that some of the carriers show clinical symptoms and a mild accumulation of CTH in their tissues, such as seen in Fabry's patients. In one carrier there was a normal hydrolysis of CTH, both in vitro and in the CTH-loading study. This may be explained by Lyon's random X-chromosome inactivation theory.
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PMID:Metabolism of ceramide trihexoside in cultured skin fibroblasts from Fabry's patients, carriers and normal controls. 609 May 93

The cornea of a 22-week foetus with Fabry's disease was examined biochemically and histopathologically. The alpha-galactosidase activity in the cornea was very low compared with that of the normal control. Histopathologic examination revealed that intracytoplasmic lamellar bodies surrounded by a single membrane were present in the epithelial cells. The lamellar bodies were thought to result from the abnormal accumulation of ceramide trihexoside. We conclude that ceramide trihexoside already has begun to accumulate progressively in the epithelial cells in the mid-trimester of gestation.
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PMID:Corneal findings in a foetus with Fabry's disease. 609 21

A case of Fabry disease in a 34-year-old male who had typical exanthemas and familial occurrence is reported. Biochemical examinations revealed a decreased level of serum alpha-galactosidase (0.04 n mol/h/cc). On electronmicroscopy the granules specific for Fabry disease were observed in the skin lesions. By the excessive accumulation of specific granules in the vascular wall, the endothelial cells were replaced by thrombi and the muscle cells were disarrayed. This process might be followed by the appearance of teleangiectatic eruptions.
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PMID:Angiokeratoma corporis diffusum (Fabry disease): ultrastructural studies of the skin. 616 12

Electron microscopy of renal biopsy specimens obtained from three patients revealed typical laminated electron-dense bodies (myeloid bodies) previously believed to be diagnostic of Fabry's disease. None of the patients manifested clinical features characteristic of this disorder, and in one patient leukocyte alpha-galactosidase levels were normal. In comparison with patients with either the heterozygous or homozygous expression of Fabry's disease, in our patients the myeloid bodies were much fewer in number. These observations suggest that the findings of occasional myeloid bodies in renal biopsy specimens should be interpreted with caution.
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PMID:Myeloid bodies in patients without clinical Fabry's disease. 624 9

The present case is a 24-years-old man who complained painful attack with numbness in both bilateral shoulder regions and distal extremities. This pain was increased by the stimulations of sunlight and heat. On physical examinations, he had an acromegalic-like-appearance, thick mustache and beard. Malocclusion of the teeth which showed the broad space was found. And skin lesion was not found out. Hypesthesia in bilateral distal extremities was revealed and no other abnormal neurological findings were observed. He was made diagnosis of Fabry's disease by laboratory examinations which were alpha-galactosidase deficiency analysed in leukocytes, increased ceramide trihexosides demonstrated in urinary sediment and electron microscopic findings in the biopsy of the skin and sural nerve. His mother had and decreased alpha-galactosidase activity which levels showed between normal and patient and was speculated to be a carrier. On an electron microscopy, "Zebra body" was observed in fibroblasts, capillary endothelial cells, their pericytes, prineural and Schwann cells. Many of them had a distinct limiting membrane and laminal structure with irregular alterations of light and dark zone. In the cytoplasma of Schwann cells, there were many rough endoplasmic reticulums which were located parallel with alignment and seemed to show the loosed laminal structure with the unclear limited membrane. Occasionally, fusions between irregular laminal structure and rough endoplasmic reticulum were also observed. These findings could be indicated that the formation of Zebra body is related to rough endoplasmic reticulum, because laminal structure which described above is corresponded to pre-Zebra body. In the cytoplasma of the prineural cells, recket-like structure which was seen in histiocytosis X were occasionally observed.
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PMID:[Fabry's disease with malocclusion and acromegalic-appearance: clinical and electromicroscopic studies (author's transl)]. 624 68


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