title: Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy.
abstract: Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism, resulting from a deficiency in alpha-galactosidase A (alpha-Gal A). A 56-year-old Japanese woman was at first suspected of having hypertrophic cardiomyopathy. The patient and her son had alpha-Gal A activity in leukocytes that was remarkably below the limit of controls. DNA analysis of the alpha-Gal A gene revealed a novel missense mutation at codon 19 in exon 1, resulting in leucine-to-proline substitution. As a result she was confirmed as a classic Fabry heterozygote. Recent advances in enzyme replacement therapy can reverse the storage of glycosphingolipids in Fabry's disease. Thus, in patients with cardiac hypertrophy, it is important to differentiate Fabry's disease from other causes of hypertrophy. Therefore, it is necessary to measure alpha-Gal A activity in all suspected cases and to analyze genetic abnormalities in heterozygotes.
authors.affiliation: Department of Internal Medicine, Osaka City University Medical School, Japan.
authors.forename: Masakazu
authors.initials: M
authors.lastname: Teragaki
authors.forename: Akemi
authors.initials: A
authors.lastname: Tanaka
authors.forename: Kaname
authors.initials: K
authors.lastname: Akioka
authors.forename: Hoang Thi Ngkoc
authors.initials: HT
authors.lastname: Lan
authors.forename: Yasuaki
authors.initials: Y
authors.lastname: Nishi
authors.forename: Tsunekazu
authors.initials: T
authors.lastname: Yamano
authors.forename: Junichi
authors.initials: J
authors.lastname: Yoshikawa
mesh_terms: D006332:Cardiomegaly / Q000175:diagnosis / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000235:genetics*; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase