Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation
J. inborn errors metab. screen
; 2: e140008, 2014. tab, graf
Article
in En
|
LILACS-Express
| LILACS
| ID: biblio-1090857
Responsible library:
BR1.1
ABSTRACT
Abstract Fabry disease (FD) is an inborn error of metabolism characterized by deficient/absent activity of lysosomal enzyme alpha-galactosidase A, which results in systemic accumulation of glycosphingolipids and progression to renal failure, heart and cerebrovascular disease, and small-fiber peripheral neuropathy. This article describes a Brazilian family affected by FD caused by a novel mutation in exon 6 of the alpha-galactosidase A (GLA) gene (c.812G>C). Signs and symptoms identified were pain crisis, acroparesthesia, hypohidrosis, abdominal cramps and diarrhea, chronic kidney disease, cornea verticillata, left ventricular hypertrophy, and complete heart block. Headache was a common complaint and 1 of the patients presented with aseptic meningitis. The novel missense mutation in the GLA gene identified in this Brazilian family is consistent with the classic FD phenotype.
Full text:
1
Collection:
01-internacional
Database:
LILACS
Type of study:
Diagnostic_studies
Language:
En
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2014
Document type:
Article
Affiliation country:
Brazil
Country of publication:
Brazil