DBT
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Gene summaries condense public reference material; disease links and population data change as databases are updated. Clinical decisions belong with your care team.
dihydrolipoamide branched chain transacylase E2
Normal Function
Health Conditions Related to Genetic Changes
Maple syrup urine disease
More than 70 mutations in the DBT gene have been identified in people with maple syrup urine disease, most often in individuals with mild variants of the disorder. These variant forms become apparent later in infancy or childhood, and they lead to delayed development and other health problems if not treated.
Mutations in the DBT gene include changes in single DNA building blocks (base pairs) and insertions or deletions of a small amount of DNA in the DBT gene. These changes disrupt the normal function of the E2 component, preventing the BCKD enzyme complex from effectively breaking down leucine, isoleucine, and valine. As a result, these amino acids and their byproducts build up in the body. This accumulation is toxic to cells and tissues, particularly in the nervous system. The buildup of these substances can lead to developmental delay and the other health problems associated with maple syrup urine disease.
More About This Health ConditionRelated Conditions
Maple syrup urine disease
Health Conditions Related to Genetic Changes
More than 70 mutations in the DBT gene have been identified in people with maple syrup urine disease, most often in individuals with mild variants of the disorder. These variant forms become apparent later in infancy or childhood, and they lead to delayed development and other health problems if not treated.
Mutations in the DBT gene include changes in single DNA building blocks (base pairs) and insertions or deletions of a small amount of DNA in the DBT gene. These changes disrupt the normal function of the E2 component, preventing the BCKD enzyme complex from effectively breaking down leucine, isoleucine, and valine. As a result, these amino acids and their byproducts build up in the body. This accumulation is toxic to cells and tissues, particularly in the nervous system. The buildup of these substances can lead to developmental delay and the other health problems associated with maple syrup urine disease.