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Learn about beta-ketothiolase deficiency (BKT)
Beta-ketothiolase deficiency is an inborn metabolic disorder. The disease is inherited on the chromosome due to mutations in the T2 gene (ACAT1) located on the long arm of chromosome 11 (11q22.3-q23.1) that encodes the enzyme acetoacetyl CoA thiolase, also known as the beta-ketothiolase enzyme.
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Cardiology Pediatrics Orthopedics