Cases reported "Fabry Disease"

Filter by keywords:



Filtering documents. Please wait...

1/92. Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.

    Two male relatives with fabry disease presented striking differences in clinical symptoms and age of onset. The propositus had retarded statural growth and skeletal dysplasia while his nephew suffered mainly from aggravating acroparesthesia and celiac disease. fabry disease is an X-linked inborn error of glycosphingolipid metabolism resulting from deficient activity of the lysosomal hydrolase alpha-galactosidase A (alpha-Gal A) enzyme. The alpha-Gal A gene is located at Xq22.1. Efforts to establish genotype-phenotype correlations have been limited because most patients have private mutations. In previous clinical studies performed in families with fabry disease, marked differences in phenotype are described between affected relatives. This family also demonstrates the difficulty in predicting the clinical phenotype in patients and relatives with the same alpha-Gal A mutation. Furthermore, in the absence of a family history, the diagnosis may be easily missed.
- - - - - - - - - -
ranking = 1
keywords = enzyme
(Clic here for more details about this article)

2/92. Cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy.

    A case of cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy is reported. The diagnosis was obtained by biventricular endomyocardial biopsy showing severely hypertrophied myocardiocytes with large periodic acid-Schiff and sudan black positive perinuclear vacuoles, shown at electromicroscopy to consist of lamellated cytoplasmic figures highly suggestive of Fabry's disease, and confirmed by diagnostic low activity of alpha-galactosidase A in the peripheral lymphocytes. Invasive approach was suggested by the occurrence of a long-standing atrial fibrillation that failed to determine deterioration of cardiac function. Differential diagnosis between hypertrophic cardiomyopathy and the cardiac variant of Fabry's disease is relevant for prognostic and therapeutic implications including the perspective of an enzyme replacement therapy.
- - - - - - - - - -
ranking = 12585.882268739
keywords = enzyme replacement therapy, enzyme replacement, replacement therapy, enzyme, replacement
(Clic here for more details about this article)

3/92. A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene.

    We report a case of symptomatic heterozygous female Fabry's disease with low alpha-galactosidase blood activity. We could not find any mutations in the coding regions of either the signal peptide or the enzyme subunit in our case.
- - - - - - - - - -
ranking = 1
keywords = enzyme
(Clic here for more details about this article)

4/92. Induced sputum examination: diagnosis of pulmonary involvement in Fabry's disease.

    Fabry's disease is a rare inherited metabolic disorder caused by a deficiency in the enzyme alpha-galactosidase A. It can affect almost every organ, including the lungs. Confirmation of lung involvement has depended on invasive bronchial biopsy specimens or brushings to confirm the presence of typical lamellar inclusion bodies within bronchial epithelial cells. We report a patient with known Fabry's disease in whom these inclusion bodies were identified by examination of induced sputum.
- - - - - - - - - -
ranking = 1
keywords = enzyme
(Clic here for more details about this article)

5/92. Clinical features of and recent advances in therapy for fabry disease.

    fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. Intracellular accumulation of globotriaosylceramide, the glycolipid substrate of this enzyme, leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction and early death. Men are predominantly affected but many female carriers have similar clinical involvement, including increased risk of stroke. Physical stigmata, such as angiokeratomas in skin and mucous membranes and characteristic benign corneal abnormalities, facilitate identification of fabry disease. The finding of a marked decreased activity of alpha-galactosidase A in white blood cells or cultured skin fibroblasts confirms the diagnosis. Treatment thus far has been symptomatic only. Etiology-based therapies are being developed that include enzyme replacement therapy, gene therapy, and substrate deprivation. Our recently completed double-blind, placebo-controlled trial of intravenous infusions of alpha-galactosidase A in patients with fabry disease demonstrated the safety and efficacy of this treatment. JAMA. 2000;284:2771-2775.
- - - - - - - - - -
ranking = 12586.882268739
keywords = enzyme replacement therapy, enzyme replacement, replacement therapy, enzyme, replacement
(Clic here for more details about this article)

6/92. A new case of alpha-n-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation.

    alpha-n-acetylgalactosaminidase (alpha-NAGA) deficiency is a rare hereditary lysosomal storage disease, and only three alpha-NAGA-deficient patients with angiokeratoma corporis diffusum (Kanzaki) have been described. We report a further case in a 47-year-old Japanese woman, the product of a consanguineous marriage. The remarkable findings in this patient were her normal intelligence, Meniere's syndrome, disturbance of peripheral sensory nerves, hearing loss and cardiac hypertrophy. alpha-NAGA enzyme activity in her plasma was 0.77% of the normal value. Other enzyme activities, such as alpha-galactosidase, beta-galactosidase, alpha-l-fucosidase, beta-mannosidase and aspartylglucosaminidase, were within normal limits. A large quantity of amino acid O-glycans was detected in her urine. Gene analysis revealed a novel point mutation (G-->A transition) at nucleotide 11018 (986 in the cDNA) resulting in an Arg-329-Gln substitution. Kanzaki disease has the same enzyme defect as Schindler disease, but the manifestations are quite different.
- - - - - - - - - -
ranking = 3
keywords = enzyme
(Clic here for more details about this article)

7/92. Echocardiographic ultrasonic tissue characterization in a case of Fabry's disease following renal transplantation.

    We report a case of Fabry's disease where stabilization of progressive cardiac involvement was recorded in a 29-yr-old Caucasian man, to our knowledge, for the first time by ultrasonic tissue characterization echocardiography after 1 yr of successful renal transplantation. Three echocardiographic evaluations have been made: the first 3 months before, the second 6 months after, and the third 1 yr after kidney transplantation. The myocardial structural damage - evaluated by integrated backscatter index - shows a persistence of the impairment of intrinsic myocardial contractility at septum level, probably due to coexistent hypertensive status, which is able to induce per se alterations of myocardial textural parameters. On the other hand, the cyclic variation index at posterior free wall, which is less dependent on strictly hemodynamic factors than the septum, appears quite normal at the third observation. These data could reflect the improvement of the ultrastuctural myocardial findings in relation to renal transplantation, which could correct not only renal failure but also the enzymatic deficiency by replacement of alpha-galactosidase A through the transplanted kidney.
- - - - - - - - - -
ranking = 0.40761817148594
keywords = replacement
(Clic here for more details about this article)

8/92. Neurological presentation of Fabry's disease in a 52 year old man.

    Fabry's disease is an X linked inborn error of metabolism due to deficient activity of the lysosomal enzyme alpha galactosidase A. Previously unrecognised Fabry's disease presenting in a 52 year old man being investigated for progressive dysarthria and ataxia is discussed. brain magnetic resonance imaging suggested the presence of small vessel disease but skin biopsy (done to exclude cerebral autosomal dominant arteriopathy with subcortical infarcts and leucencephalopathy) showed typical changes of Fabry's disease. This diagnosis was confirmed by subsequent enzyme assays. The authors contend that Fabry's disease should be excluded, at least on clinical grounds, in patients with otherwise unexplained cerebrovascular disease.
- - - - - - - - - -
ranking = 2
keywords = enzyme
(Clic here for more details about this article)

9/92. A novel A97P amino acid substitution in alpha-galactosidase A leads to a classical fabry disease with cardiac manifestations.

    BACKGROUND: fabry disease results from a genetic deficiency of alpha-galactosidase A (GLA) activity. phenotype-genotype correlations in this condition have not as yet been fully elucidated. OBJECTIVE: To report a case of a male patient with classical fabry disease and his mother, a heterozygous female with fabry disease, showing cardiac involvement, and to identify the underlying GLA gene mutation in this particular phenotype. patients/methods: Genomic dna was extracted from the patient, his mother and the unaffected family members. biopsy specimens of skin, heart and kidney were examined using light and electron microscopy. The mutation was identified by polymerase chain reaction and direct sequencing and was confirmed by restriction enzyme fragment length polymorphism. RESULTS: The G-->C transversion was identified in codon 97 of the GLA gene and resulted in an A97P amino acid substitution that was a novel pathogenic GLA gene mutation. The male patient who had classical fabry disease was hemizygous and his mother was heterozygous for this mutation. CONCLUSIONS: These results indicate that the A97P amino acid substitution in GLA might tend to induce classical fabry disease.
- - - - - - - - - -
ranking = 1
keywords = enzyme
(Clic here for more details about this article)

10/92. angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.

    angiokeratoma corporis diffusum (ACD), initially considered to be synonymous with Fabry's disease, represents a well-known cutaneous marker of some other lysosomal enzyme disorders. aspartylglucosaminuria (AGU) is a rare hereditary disorder mostly affecting the Finnish population, with only a few sporadic patients of non-Finnish origin. To date, only three patients with AGU have been reported with cutaneous lesions of ACD. A 19-year-old Spanish woman presented with a 10-year history of progressive ACD affecting the limbs, buttocks and trunk. After the age of 6 years she had developed progressive mental deterioration, coarse facies and macroglossia with a scrotal appearance. Peripheral blood smears showed many vacuolated lymphocytes. Enzyme analysis in cultured fibroblasts revealed a decreased activity of aspartylglucosaminidase. By the age of 31 years the patient had developed a bipolar psychosis, polycystic ovarian disease and severe impairment of cognitive skills. This is the first case of AGU detected in a Spanish patient presenting with cutaneous lesions of ACD. To our knowledge, macroglossia with a scrotal appearance and polycystic ovarian disease have not been reported in previous cases of AGU.
- - - - - - - - - -
ranking = 1
keywords = enzyme
(Clic here for more details about this article)
| Next ->


Leave a message about 'Fabry Disease'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.