A Novel Mutation in Exon 6 in a Patient with Fabry's Disease.
- Author:
Ji Hyun KIM
1
;
Joon Kyoon LEE
;
Soo Bin YIM
;
Shin Kwang KHANG
;
Kwang Kuk KIM
Author Information
1. Department of Neurology, Ulsan Medical College, Asan Medical Center.
- Publication Type:Original Article
- Keywords:
Fabry's disease;
alpha-galactosidase A;
Acroparesthesia
- MeSH:
alpha-Galactosidase;
Angiokeratoma;
Autonomic Nervous System;
Carbamazepine;
Clonazepam;
Corneal Opacity;
Endothelial Cells;
Endothelium, Vascular;
Enzyme Assays;
Exons*;
Fabry Disease*;
Fibroblasts;
Ganglia, Spinal;
Humans;
Metabolism;
Microscopy, Electron;
Myocardial Ischemia;
Myocytes, Smooth Muscle;
Nervous System;
Neutral Glycosphingolipids;
Peripheral Nerves;
Puberty, Delayed;
Renal Insufficiency;
Stroke;
Young Adult
- From:Journal of the Korean Neurological Association
1999;17(5):730-734
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Fabry's disease, angiokeratoma corporis diffusum, is a rare X-linked inborn error of glycosphingolipid metabolism due to the lack of the lysosomal enzyme, alpha-galactosidase A, resulting in a progressive intracellular deposition of neutral glycosphingolipids in various tissues, including the dorsal root ganglia, autonomic nervous system, vascular endothelial, and smooth muscle cells. Clinical manifestations of Fabry's disease result predominantly from the progressive deposition of globotriaocylceramide in the nervous system or vascular endothelium, and are characterized by acro-paresthesia, angiokeratoma, corneal opacity, TIA or stroke, ischemic heart disease, and renal failure. We report a case of a 19-year-old man presenting with a 12-year history of severe distal pain, acroparesthesia, short stature, and delayed puberty. An enzymatic assay disclosed substantially diminished alpha-galactosidase A activity and an electron microscopy of the peripheral nerve showed lipid inclusions which were composed of concentrically laminated, ovoid osmiophilic bodies in the perineural fibroblast and endothelial cells. These findings are typical of Fabry's disease and additional genetic study revealed deletion mutation(TTAG) at the 6th exon of the alpha-galactosidase A gene, which is a novel mutation that had never been reported in literatures. Symptomatic treatment with carbamazepine and clonazepam was tried with a good response.
