High Variability of Fabry Disease Manifestations in an Extended Italian Family
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چکیده
منابع مشابه
High Variability of Fabry Disease Manifestations in an Extended Italian Family
Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL). The impairment of α-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the sa...
متن کاملClinical and molecular characterization of an extended family with Fabry disease.
OBJECTIVE To characterize clinical manifestations, biochemical changes, mutation of alpha-Galactosidase (alpha-Gal A) gene A (GLA), and functional capability of mutant protein. MATERIAL AND METHOD Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present study. In each individual, clinical history, physical examination, leukocyte enzyme ac...
متن کاملAnderson-Fabry disease: extrarenal, neurologic manifestations.
The advent of enzyme replacement therapy for AndersonFabry disease (AFD) adds impetus for the early detection of patients with this inherited multiorgan lipid storage disease. The resultant accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb3), in various cell types promotes development of disease-related complications associated with renal, cardiovascular, and cere...
متن کاملCardiac manifestations of Anderson-Fabry disease in heterozygous females.
OBJECTIVES We sought to define the prevalence of cardiac involvement in female patients with Anderson-Fabry disease (AFD). BACKGROUND Anderson-Fabry disease is a rare inborn X-linked lysosomal storage disorder. Globotriaosylceramide (Gb(3)), the major substrate of the deficient alpha-galactosidase A enzyme, accumulates progressively in vulnerable cells, including the cardiovascular system. It...
متن کامل[Ophthalmic manifestations in Mexican patients with Fabry disease].
UNLABELLED Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, including renal, cardiac, eye, and nervous system manifestations. AIM To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients wi...
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ژورنال
عنوان ژورنال: BioMed Research International
سال: 2015
ISSN: 2314-6133,2314-6141
DOI: 10.1155/2015/504784