Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation
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.
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| Format: | Digital revista |
| Langue: | English |
| Publié: |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
2014
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| Accès en ligne: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942014000100303 |
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