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Tay-Sachs, Canavan, GM1 and Sandhoff diseases

The enzyme is made incorrectly if both copies of the gene that codes for the enzyme contain a spelling error, which is called a mutation. Mutations in the gene can change the way the enzyme is made, and it therefore is unable to do its job. Sometimes the mutations in the gene cause the enzyme to not be made at all. When the enzyme cannot do its job, the substrate builds up.