Background& Objectives: Fabry disease (FD) is a rare lysosomal storage disease with X-linked recessive inheritance caused by a mutation in the α-galactosidase A gene (GLA) (X14448.1) on chromosome X, leading to α-galactosidase (α-Gal A) (EC: 3.2.1.22) enzyme deficiency. In this report, we present the genetic mutations, clinical features and the neurological involvement of a large Turkish family with FD diagnosed in our clinic during the etiological investigation of a young index patient with recurrent ischemic stroke episodes. Methods: We evaluated 20 members (9 male, 11 female) of a large Turkish family including the index patient. All of them were investigated with a detailed medical history, systemic and neurological examination. Enzyme activity of α-Gal A and GLA gene mutation were tested using dried blood spot (DBS) method. The normative value of α-Gal A enzyme activity was above the cut-off value of 1.2 μmol/l/h. Results: The α-Gal A activity was low in 13 cases (5 male, 27.7%). A total of 13 patients (4 male patients out of 5 males with low enzyme activity and 9 female patients) were found to have a c.[680G>A] p.[R227Q] missense mutation in the GLA gene. Ischemic stroke, renal disorder, cardiomyopathy, neuropathic pain, acroparesthesia, hearing loss, ocular involvement, angiokeratoma, hypohydrosis and hyperhydrosis were the clinical manifestations of FD in the affected family members. Conclusion: The clinical and genetic features of this large Turkish family with FD support an association between the neurological phenotype and the c.[680G>A] p.[R227Q] mutation. Since FD is treatable, it is recommended to perform enzymatic and genetic studies among family members.
Fabry Disease

No abstract available.
Angiokeratoma* ; Fabry Disease*

No abstract available.
Cardiomyopathy, Hypertrophic ; Fabry Disease

No abstract available.
Fabry Disease ; Humans ; Male

Humans ; Fabry Disease/therapy*

Cardiomyopathy, Hypertrophic ; Fabry Disease ; Humans

Fabry Disease ; diagnosis ; therapy ; Humans

Fabry's disease is a rare, X-linked disorder of the glycosphingolipid metabolism, in which a partial or total deficiency of a lysosomal alpha(alpha)-galactosidase results in the progressive accumulation of neutral glycosphingolipids with terminal alpha galactose moieties (i.e., cerebroside di- and trihexoside) in most body fluids and tissues. Accumulation of neutral glycosphingolipids occurs within the lysosomes of endothelial, perithelial, and smooth muscle cells of the myocardial and renal systems; to a lesser extent in reticuloendothelial and connective cells of the cornea; and in ganglion and perineural cells of the autonomic nervous system. In Korea, 7 cases of Fabry's disease have been reported. A 29-year-old man with fever and headache had typical skin findings and a family history of Fabry's disease, and it was confirmed through renal biopsy and enzyme assay for alpha-galactosidase. We report a case of Fabry's disease with a review of the literatures reported in Korea.
Adult ; Case Report ; Fabry Disease/pathology* ; Fabry Disease/metabolism ; Fabry Disease/diagnosis ; Human ; Male

No abstract available.
Fabry Disease* ; Kidney Failure, Chronic* ; Peritoneal Dialysis, Continuous Ambulatory*

Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the alpha-galactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene mutation.
alpha-Galactosidase ; Child ; Enzyme Replacement Therapy ; Fabry Disease ; Humans ; Siblings