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Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells.he progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease. GLA gene mutations that result in an absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease.
Mutations cause changes in the genetic code that lead to genetic variation and the potential to develop disease. Gene mutations can be generally categorized into two types: point mutations and base-pair insertions or deletions. Point mutations are the most common type of gene mutation.Also called a base-pair substitution, this type of mutation changes a single nucleotide base pair. Nonsense Mutation: This type of mutation alters the nucleotide sequence so that a stop codon is coded for in place of an amino acid. 2  A stop codon signals the end of the translation process and stops protein production.