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 case of Fabry's disease with pulmonary regurgitation is reported, and the cause of valvular involvement, the electrophysiological mechanism of the short PR interval, and the usefulness of the endomyocardial biopsy method in an attempt to establish the diagnosis in Fabry's disease have been discussed.
Jpn Circ J 1977 Sep
PMID:Cardiac manifestations of Fabry's disease. Report of a case with pulmonary regurgitation diagnosed on the basis of endomyocardial biopsy findings. 41 Sep 63

Fifteen patients with lysosomal storage diseases were studied. Diagnoses of their illnesses included infantile Gaucher disease; Krabbe disease; Niemann-Pick disease, type A; glycogen storage disease, type 3; Fabry disease, Jansky-Bielschowsky and Spielmeyer-Vogt types of amaurotic idiocy, GM1 gangliosidosis, type 1; Hurler disease; and Sanfilippo disease, types A and B. We carried out ultrastructural examinations of skin biopsy specimens that were taken to establish a cultured fibroblast line on each patient. We found diagnostic storage inclusions in all patients except those with infantile Gaucher disease, Krabbe disease, and Spielmeyer-Vogt disease, This technique can be carried out on a specimen obtained by a primary physician on an out-patient basis, thus avoiding major surgery.
Arch Neurol 1975 Sep
PMID:Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy specimens. 80 24

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".
Nouv Presse Med 1975 Sep 13
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 63 year old man with complete atrioventricular block was diagnosed as having Fabry's disease. A short PR interval is a common electrocardiographic finding in Fabry's disease, but complete atrioventricular block is a very rare complication. Necropsy indicated that lipid accumulation in the atrioventricular conduction system was the probable cause of this patient's atrioventricular block.
Br Heart J 1992 Sep
PMID:Fabry's disease with complete atrioventricular block: histological evidence of involvement of the conduction system. 138 67

A purine degradation study, thermography and near infrared spectroscopy of the extremities were performed on 2 young males with Fabry disease and 2 healthy controls. Two-minute semi-ischemic forearm exercise caused a distinct increase in lactate in all subjects, but venous hypoxanthine and ammonia were greatly increased only in the Fabry patients, suggesting a relatively hypoxic state of the extremities. Limb thermograms of the patients revealed glove and stocking type disturbance at rest. Poor recovery of the skin temperature of the hands and forearms after exercise was observed in the patients, but the sharp increase in oxygenated hemoglobin after total ischemia was found to be normal or near infrared spectroscopy. Neurotropin showed an analgesic effect, i.e. a strong and selective heat-productive action on the painful lesions, and suppressed the hypoxanthine level after exercise in 1 patient. Although the pathophysiology of the pain in Fabry disease has not been clearly elucidated, a relatively hypoxic state with peripheral hypothermia might play an important role in triggering of a painful attack or chronic burning paresthesia.
Brain Dev 1992 Sep
PMID:Relative hypoxia of the extremities in Fabry disease. 145 89

The insulin derivative 4-azidosalicyloyl-[B1-biocytin-B2-lysine]insulin was used to photo-affinity-label the highly purified insulin receptor from human placenta. As shown by SDS-polyacrylamide gel electrophoresis, the 5 monoiodo isomers, with iodine in positions B1, B16, B26, A14 or A19, gave different labelling patterns. After complete tryptic digestion of the covalent receptor complex with 125I-Asa-[BctB1,LysB2]insulin, a stable fragment of 18 kDa was isolated, which was further purified by HPLC. This tryptic fragment of the intact receptor corresponds, according to HPLC, Tricin-SDS-PAGE and 2D-electrophoresis, to the similarly labelled sequenced domain of the receptor ectodomain (Fabry, M. et al. (1992) J. Biol. Chem. 267, 8950-8956). We thus conclude that insulin is bound to identical contact sites of native receptor and truncated ectodomain.
Biol Chem Hoppe Seyler 1992 Sep
PMID:Analysis of the human insulin receptor. 146 89

We report the results of a fluorometric assay for alpha-galactosidase A (EC.3.2.1.22) in plasma and leukocytes, and fast atom bombardment/mass spectrometry (FAB/MS) analysis of glycosphingolipids in urine sediments from a patient with Fabry's disease. In plasma, this patient had only 5.0% of the normal amount of alpha-galactosidase A, and his brother and mother had 11.0% and 25.0%, respectively. In leukocytes, the activities were below 8.0%. Glycosphingolipids from urine sediments were partially purified using a Sep-Pack C18 cartridge. The chemical diagnosis of Fabry's disease can be made more rapidly and accurately using fluorometric and FAB/MS analyses.
 ...
PMID:Chemical diagnosis of Fabry's disease by fluorometric assay and fast atom bombardment/mass spectrometry. 165 42

Fabry disease is an X-linked disorder accompanied with accumulation of glycosphingolipids resulting from the deficient activity of the lysosomal hydrolase, alpha-galactosidase A (alpha-GalA). In the present study, mRNA for alpha-GalA in fibroblasts from an 11-year-old Japanese patient with Fabry disease was examined using the reverse transcriptase-polymerase chain reaction (PCR). The shorter message of alpha-GalA was demonstrated in this patient when compared with the normal control. The complete deletion of exon 4 in the mRNA for alpha-GalA in the patient was disclosed by analysis of cDNA with restriction enzyme digestion and asymmetrical PCR sequencing. The direct sequencing of the genomic DNA demonstrated a single base substitution (G----A) at the 3' end of the consensus sequence of intron 3. This mutation destroyed a splice site in the alpha-GalA, which produced a mutant allele. It was also shown that the mother of the patient had this mutant as well as normal alleles as a heterozygote.
Jinrui Idengaku Zasshi 1991 Sep
PMID:A 3' splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease. 175 37

A female case of angiokeratoma corporis diffusum without systemic involvement, with alpha-galactosidase A activity in the normal range, alpha-L-fucosidase in the lower levels of the normal range, and a few amount of urinary sialic acid is reported. Some problem about differential diagnosis with inherited disorders as Fabry's disease, fucosidosis, sialidosis is discussed. Although cases of angiokeratoma corporis diffusum without any underlying enzyme defect have been reported, we believe that angiokeratoma corporis diffusum is always related to known or unknown enzymatic defect, which activities could result in the normal range probably in relation to enzymatic polymorphism.
G Ital Dermatol Venereol 1990 Sep
PMID:Angiocheratoma corporis diffusum with normal enzyme activities. 212 69

A new method is described for the detection of abnormal urinary oligosaccharide and glycopeptide excretion by thin layer chromatography and differential visualization of oligosaccharides and glycopeptides. This method permits rapid screening and identification of disorders characterized by oligosacchariduria and glycopeptiduria including alpha-N-acetylgalactosaminidase deficiency, angiokeratoma corporis diffusum with glycopeptiduria, aspartylglucosaminuria, galactosialidosis, fucosidosis, GM1 gangliosidosis and sialidoses 1 and 2. Of note, the characterization of the glycopeptide excretion profiles in patients with alpha-N-acetylgalactosaminidase deficiency and angiokeratoma corporis diffusum with glycopeptiduria revealed essentially identical patterns, indicating the metabolic relatedness of these two phenotypically distinct conditions. Use of this improved thin layer chromatographic method should enhance routine screening of patients for lysosomal storage diseases as well as permit the identification of new disorders resulting from defective oligosaccharide and/or glycoprotein metabolism.
Clin Chim Acta 1990 Sep
PMID:A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases. 220 41


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